Submissions for variant NM_017780.4(CHD7):c.1170T>C (p.Tyr390=)

gnomAD frequency: 0.00004  dbSNP: rs554737227

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175890	SCV000227461	uncertain significance	not provided	2014-07-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088947	SCV001004108	likely benign	CHARGE syndrome	2024-07-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002326961	SCV002627544	likely benign	Inborn genetic diseases	2019-08-20	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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000175890	SCV001739655	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699220	SCV001917662	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000175890	SCV001973991	likely benign	not provided		no assertion criteria provided	clinical testing