ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.169G>A (p.Ala57Thr) (rs151010429)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172115 SCV000051062 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV000172115 SCV000290715 likely benign not provided 2019-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620642 SCV000734932 uncertain significance Cardiovascular phenotype 2017-10-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845447 SCV000987532 uncertain significance Arrhythmogenic right ventricular cardiomyopathy criteria provided, single submitter clinical testing
OMIM RCV000074479 SCV000108563 pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 5 2013-11-01 no assertion criteria provided literature only

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