ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2758C>T (p.Arg920Trp)

gnomAD frequency: 0.00003  dbSNP: rs773773546
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001238919 SCV001411753 benign CHARGE association 2023-11-07 criteria provided, single submitter clinical testing
GeneDx RCV001586079 SCV001818185 likely benign not provided 2020-03-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436940 SCV002752159 likely benign Inborn genetic diseases 2018-11-29 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 RCV001586079 SCV004702201 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing CHD7: BP4

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