ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.10707C>T (p.Ile3569=)

gnomAD frequency: 0.00003  dbSNP: rs539298479
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468177 SCV000557202 benign Long QT syndrome 2022-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621226 SCV000738061 likely benign Cardiovascular phenotype 2017-06-24 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.
GeneDx RCV001683510 SCV001902464 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253451 SCV002525090 benign Cardiac arrhythmia, ankyrin-B-related 2021-12-05 criteria provided, single submitter clinical testing

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