ClinVar Miner

Submissions for variant NM_014391.3(ANKRD1):c.346-27_346-12del

dbSNP: rs751818504
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001713286 SCV001940629 benign not provided 2019-05-17 criteria provided, single submitter clinical testing
Invitae RCV002073346 SCV002331626 benign ANKRD1-related dilated cardiomyopathy 2024-01-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948690 SCV004763202 likely benign ANKRD1-related disorder 2021-11-30 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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