Submissions for variant NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr)

gnomAD frequency: 0.00482  dbSNP: rs61753399

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145686	SCV000192792	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000145686	SCV000312992	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000145686	SCV000512581	benign	not specified	2016-04-22	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000458054	SCV000562413	benign	CHARGE syndrome	2024-01-29	criteria provided, single submitter	clinical testing
SIB Swiss Institute of Bioinformatics	RCV000458054	SCV000803586	likely benign	CHARGE syndrome	2018-05-31	criteria provided, single submitter	curation	This variant is interpreted as a Likely Benign, for CHARGE syndrome, in Autosomal Dominant manner. The following ACMG Tag(s) were applied: BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age. BP4 => Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.).
Ambry Genetics	RCV002312633	SCV000847333	benign	Inborn genetic diseases	2016-07-01	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000145686	SCV001365641	benign	not specified	2017-08-23	criteria provided, single submitter	clinical testing	p.Ala2160Thr in exon 31 of CHD7: This variant is not expected to have clinical significance because it has been identified in 1.47% (140/9514) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs61753399).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000145686	SCV004813149	likely benign	not specified	2024-02-25	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004704990	SCV005223612	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000145686	SCV001744917	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000145686	SCV001920875	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000145686	SCV001957904	benign	not specified		no assertion criteria provided	clinical testing