Submissions for variant NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu)

gnomAD frequency: 0.00137  dbSNP: rs71640285

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247781	SCV000312945	likely benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000247781	SCV000340987	likely benign	not specified	2016-04-19	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000247781	SCV000594097	uncertain significance	not specified	2016-11-07	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659296	SCV000781101	uncertain significance	CHARGE association	2016-11-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311395	SCV000847071	likely benign	Inborn genetic diseases	2017-12-18	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	RCV000247781	SCV000864332	likely benign	not specified	2017-07-17	criteria provided, single submitter	clinical testing	BS1, BP1, BP6; This alteration has an allele frequency that is greater than expected for the associated disease, is a missense alteration in a gene for which primarily truncating variants are known to cause disease, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Invitae	RCV000659296	SCV001000714	likely benign	CHARGE association	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001160695	SCV001322516	benign	Hypogonadotropic hypogonadism 5 with or without anosmia	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV001528317	SCV001940185	benign	not provided	2019-10-14	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24862881, 29419413, 23533228, 16763960, 22539353, 28135719, 18834967)
CeGaT Center for Human Genetics Tuebingen	RCV001528317	SCV004155844	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	CHD7: BS1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528317	SCV001739856	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001528317	SCV001798732	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001528317	SCV001958548	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001528317	SCV001964768	likely benign	not provided		no assertion criteria provided	clinical testing