ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.4206T>C (p.Ser1402=)

gnomAD frequency: 0.00003  dbSNP: rs769675138
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000826964 SCV000968568 likely benign not provided 2021-05-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002332728 SCV002628106 likely benign Cardiovascular phenotype 2020-02-02 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 RCV003768567 SCV004613066 likely benign Long QT syndrome 2023-01-14 criteria provided, single submitter clinical testing

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