ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.7251T>C (p.Asp2417=)

gnomAD frequency: 0.00016  dbSNP: rs201688836
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001087930 SCV000557195 likely benign Long QT syndrome 2025-01-16 criteria provided, single submitter clinical testing
GeneDx RCV000459474 SCV001797234 likely benign not provided 2021-06-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374838 SCV002671978 benign Cardiovascular phenotype 2019-07-15 criteria provided, single submitter clinical testing This alteration is classified as 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782389 SCV005395589 benign not specified 2024-09-08 criteria provided, single submitter clinical testing

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