ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.2478G>T (p.Pro826=)

dbSNP: rs273585634
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003162532 SCV003857113 likely benign Cardiovascular phenotype 2023-01-19 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003764808 SCV004630633 likely benign not provided 2022-11-28 criteria provided, single submitter clinical testing
Willoughby Group, Queen's University Belfast RCV000114776 SCV000148671 probable-pathogenic Keratoconus 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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