ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.6529G>A (p.Glu2177Lys)

gnomAD frequency: 0.00003  dbSNP: rs750047137
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000983795 SCV001131821 likely benign CHARGE association 2023-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001712831 SCV001946040 benign not provided 2021-02-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28475860)
Ambry Genetics RCV002549605 SCV003677588 likely benign Inborn genetic diseases 2021-09-16 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.

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