Submissions for variant NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly)

gnomAD frequency: 0.00028  dbSNP: rs201083157

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145683	SCV000192787	uncertain significance	CHARGE syndrome	2013-02-08	criteria provided, single submitter	clinical testing
New York Genome Center	RCV000145683	SCV001441323	uncertain significance	CHARGE syndrome	2021-11-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000145683	SCV001691982	likely benign	CHARGE syndrome	2025-01-08	criteria provided, single submitter	clinical testing
GeneDx	RCV001555163	SCV001776530	likely benign	not provided	2020-10-21	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21158681)
Ambry Genetics	RCV005318330	SCV005983982	likely benign	Inborn genetic diseases	2025-01-10	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.
PreventionGenetics, part of Exact Sciences	RCV003917441	SCV004730542	likely benign	CHD7-related disorder	2023-03-22	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).