ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.99G>A (p.Pro33=)

gnomAD frequency: 0.00002  dbSNP: rs273585631
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002381416 SCV002688947 likely benign Cardiovascular phenotype 2020-01-30 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 RCV002514569 SCV003000806 likely benign not provided 2024-01-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003155077 SCV003844264 likely benign not specified 2023-02-27 criteria provided, single submitter clinical testing
Willoughby Group, Queen's University Belfast RCV000114792 SCV000148687 probable-pathogenic Keratoconus 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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