ClinVar Miner

Submissions for variant NM_213674.1(TPM2):c.397C>T (p.Arg133Trp) (rs137853305)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000128682 SCV000859087 pathogenic not provided 2018-01-09 criteria provided, single submitter clinical testing
OMIM RCV000013279 SCV000033526 pathogenic ARTHROGRYPOSIS, DISTAL, TYPE 2B4 2013-05-01 no assertion criteria provided literature only
TPM2 homepage - Leiden Muscular Dystrophy pages RCV000128682 SCV000172322 not provided not provided no assertion provided not provided

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