ClinVar Miner

Submissions for variant NM_003289.4(TPM2):c.271C>G (p.Arg91Gly)

dbSNP: rs104894127
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000013276 SCV000033523 pathogenic Arthrogryposis, distal, type 1A 2003-03-01 no assertion criteria provided literature only
TPM2 homepage - Leiden Muscular Dystrophy pages RCV000128679 SCV000172319 not provided not provided no assertion provided not provided

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