ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.1710A>G (p.Ala570=)

gnomAD frequency: 0.00002  dbSNP: rs757515084
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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 RCV001484600 SCV001689019 likely benign Long QT syndrome 2019-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001664897 SCV001874595 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253818 SCV002524999 benign Cardiac arrhythmia, ankyrin-B-related 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002405142 SCV002714582 likely benign Cardiovascular phenotype 2020-08-17 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.

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