ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.8979A>G (p.Ile2993Met)

gnomAD frequency: 0.00064  dbSNP: rs112252825
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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 RCV001244902 SCV001418155 likely benign Long QT syndrome 2023-12-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001587275 SCV001471610 likely benign not provided 2020-08-23 criteria provided, single submitter clinical testing
GeneDx RCV001587275 SCV001822682 likely benign not provided 2023-05-05 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002447210 SCV002682124 benign Cardiovascular phenotype 2019-04-05 criteria provided, single submitter clinical testing This alteration is classified as 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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