Submissions for variant NM_017780.4(CHD7):c.90G>A (p.Pro30=)

gnomAD frequency: 0.00006  dbSNP: rs374464240

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175884	SCV000227455	uncertain significance	not provided	2014-08-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079463	SCV000631284	benign	CHARGE syndrome	2024-11-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000175884	SCV001901811	benign	not provided	2020-09-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003298221	SCV003995346	likely benign	Inborn genetic diseases	2023-04-28	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV000175884	SCV004155831	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	CHD7: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences	RCV003927614	SCV004743011	likely benign	CHD7-related disorder	2019-09-23	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).