ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.7971C>T (p.Ser2657=)

gnomAD frequency: 0.00051  dbSNP: rs146085234
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722561 SCV000714474 likely benign not provided 2019-03-28 criteria provided, single submitter clinical testing
Invitae RCV000860598 SCV001000700 benign Long QT syndrome 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253520 SCV002525070 benign Cardiac arrhythmia, ankyrin-B-related 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420588 SCV002676485 likely benign Cardiovascular phenotype 2017-12-22 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.
Fulgent Genetics, Fulgent Genetics RCV002253520 SCV002802329 likely benign Cardiac arrhythmia, ankyrin-B-related 2021-08-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003155247 SCV003844622 benign not specified 2023-02-13 criteria provided, single submitter clinical testing

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