Submissions for variant NM_017780.4(CHD7):c.5310T>C (p.Asp1770=)

gnomAD frequency: 0.00012  dbSNP: rs377723386

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176579	SCV000228256	uncertain significance	not provided	2015-01-30	criteria provided, single submitter	clinical testing
Invitae	RCV001088213	SCV001004943	likely benign	CHARGE association	2023-11-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000176579	SCV001781048	likely benign	not provided	2020-02-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002345603	SCV002647234	likely benign	Inborn genetic diseases	2017-12-15	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.
CeGaT Center for Human Genetics Tuebingen	RCV000176579	SCV004155861	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	CHD7: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003947495	SCV004763032	likely benign	CHD7-related condition	2020-03-25	criteria provided, single submitter	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).
Clinical Genetics, Academic Medical Center	RCV001698991	SCV001920966	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000176579	SCV001967980	likely benign	not provided		no assertion criteria provided	clinical testing