Table 3 Variants which changed from non-pathogenic or VOUS to a variant with clinical significance on reanalysis

GAIN of chromosome band 3p26.3 spanning approximately 0.808 Mb in a non-disease-associated region

1

2015

Duplication of the CNTN6 gene is associated with a wide spectrum of neurodevelopmental behavioral disorders

• Hu et al. (2015). Journal of Neurodevelopmental Disorders 7:26

• Chunyang (2016). Mol Cytogenet 9; 51

• Mercati et al. (2017). Molecular Psychiatry 22:625–33

GAIN of chromosome band 8q11.23 spanning approximately 0.649 Mb in a non-disease-associated region

2

2015

Duplications in RB1CC1 as a risk factor for schizophrenia

• Degenhardt (2013). Translational Psychiatry 3(11):e326

LOSS of chromosome band 8p11.21 spanning approximately 0.002 Mb in a non-disease-associated region.

1

2014

CHRNB3 mediates fast signal transmission at synapses, and may therefore be associated with psychomotor developmental delay

• Miya (2012). Gene 506(1):146–9

LOSS of chromosome band 3p21.1 spanning approximately 0.0052 Mb in a non-disease-associated region.

1

2011

The existence of a tumor-suppressor gene that plays a critical role in the development and progression in various solid malignancies

• Li (2013). PLoS ONE 8(4):e60027

• Lovrecic (2016). Mol Syndromol. 7(2): 93–98

LOSS within chromosome band 20p12.1 spanning approximately 0.007 Mb in a non-disease-associated region.

1

2015

It has been reported that this macrodomain (MACROD2) is expressed in the ventricular zone of the brain, and is associated with several neurologic and psychiatric disorders

• Frye (2016). N A J Med Sci. 9(1):35–37

LOSS of chromosome bands 2q24.2q24.3 spanning approximately 1.054 Mb in a non-disese-associated region.

2

2011

KCNH7 contributes to benign familial neonatal seizures

• Okumura (2011) Epilepsia 52(7):e66–e69

• Belengeanu V (2014) Gene 539(1):168–172, 2014.