ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.164G>A (p.Gly55Asp) (rs201453637)

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Total submissions: 3
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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 RCV000172114 SCV000051061 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Color RCV000772176 SCV000905293 likely benign Cardiomyopathy 2018-10-25 criteria provided, single submitter clinical testing
Invitae RCV000642435 SCV000764113 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 5 2017-11-06 criteria provided, single submitter clinical testing

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