ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.1863C>G (p.Ser621=)

gnomAD frequency: 0.00089  dbSNP: rs146425138
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621578 SCV000737417 likely benign Cardiovascular phenotype 2016-12-16 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 RCV000860835 SCV001001000 benign Long QT syndrome 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001692229 SCV001914410 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253538 SCV002525001 benign Cardiac arrhythmia, ankyrin-B-related 2021-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002253538 SCV002806453 likely benign Cardiac arrhythmia, ankyrin-B-related 2021-07-23 criteria provided, single submitter clinical testing

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