Submissions for variant NM_017780.4(CHD7):c.6513C>T (p.Ala2171=)

gnomAD frequency: 0.00015  dbSNP: rs376020564

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000415800	SCV000113785	uncertain significance	not provided	2013-11-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000317924	SCV000474485	uncertain significance	Hypogonadotropic hypogonadism 5 with or without anosmia	2018-01-13	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV000415800	SCV000493553	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	CHD7: BP4, BP7
GeneDx	RCV000415800	SCV000724454	likely benign	not provided	2019-03-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000262791	SCV000755765	likely benign	CHARGE syndrome	2025-01-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362731	SCV002659296	likely benign	Inborn genetic diseases	2022-06-02	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.
Clinical Genetics, Academic Medical Center	RCV000081850	SCV001921209	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000415800	SCV001927680	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003952522	SCV004768784	likely benign	CHD7-related disorder	2020-01-17	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).