ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.4554C>T (p.Thr1518=)

gnomAD frequency: 0.00001  dbSNP: rs747525865
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425691 SCV000533753 likely benign not provided 2020-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060015 SCV002353211 likely benign Long QT syndrome 2021-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339090 SCV002637254 benign Cardiovascular phenotype 2020-02-20 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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