Submissions for variant NM_017780.4(CHD7):c.4851T>C (p.Gly1617=)

gnomAD frequency: 0.00016  dbSNP: rs181927766

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081837	SCV000113772	uncertain significance	not provided	2012-09-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313799	SCV000848921	likely benign	Inborn genetic diseases	2017-02-24	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084599	SCV001002244	benign	CHARGE syndrome	2024-01-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001164457	SCV001326584	likely benign	Hypogonadotropic hypogonadism 5 with or without anosmia	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000081837	SCV001868268	benign	not provided	2020-07-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003974981	SCV004791342	benign	CHD7-related disorder	2020-05-21	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).