ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.4237C>T (p.Leu1413=)

dbSNP: rs878854259
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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 RCV001404089 SCV001605978 likely benign Long QT syndrome 2024-06-25 criteria provided, single submitter clinical testing
GeneDx RCV000233362 SCV001857504 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253308 SCV002525042 benign Cardiac arrhythmia, ankyrin-B-related 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298294 SCV004003972 likely benign Cardiovascular phenotype 2023-04-03 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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