ClinVar Miner

Submissions for variant NM_014391.3(ANKRD1):c.603T>G (p.Val201=)

gnomAD frequency: 0.00015  dbSNP: rs781049118
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001513015 SCV001720543 benign ANKRD1-related dilated cardiomyopathy 2023-09-29 criteria provided, single submitter clinical testing
GeneDx RCV000869835 SCV001913370 likely benign not provided 2018-08-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352567 SCV002657781 likely benign Cardiovascular phenotype 2019-12-23 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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