ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.11277C>T (p.Ser3759=)

gnomAD frequency: 0.00490  dbSNP: rs372634401
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725790 SCV000339408 uncertain significance not provided 2016-02-11 criteria provided, single submitter clinical testing
GeneDx RCV000725790 SCV000732623 benign not provided 2019-09-12 criteria provided, single submitter clinical testing
Invitae RCV000725790 SCV002321438 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436110 SCV002745830 likely benign Cardiovascular phenotype 2020-10-07 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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