ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.361G>A (p.Gly121Ser)

gnomAD frequency: 0.00004  dbSNP: rs587783439
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145668 SCV000192770 uncertain significance CHARGE association 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000145668 SCV001387609 benign CHARGE association 2023-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162603 SCV003876564 likely benign Inborn genetic diseases 2023-03-13 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.

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