Submissions for variant NM_017780.4(CHD7):c.510G>A (p.Pro170=)

gnomAD frequency: 0.00006  dbSNP: rs748841915

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000874796	SCV001017024	likely benign	CHARGE syndrome	2023-12-19	criteria provided, single submitter	clinical testing
GeneDx	RCV001548457	SCV001768373	likely benign	not provided	2021-03-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002336844	SCV002642553	likely benign	Inborn genetic diseases	2017-11-24	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.
Fulgent Genetics, Fulgent Genetics	RCV002495308	SCV002797256	likely benign	CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia	2022-04-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001548457	SCV004702377	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	CHD7: BP4, BP7