ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.121A>G (p.Met41Val) (rs144334386)

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Total submissions: 2
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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 RCV000172113 SCV000051060 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770178 SCV000901605 uncertain significance Cardiomyopathy 2017-05-10 criteria provided, single submitter clinical testing

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