ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.26T>G (p.Met9Arg)

dbSNP: rs80358247
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV003151723 SCV000033506 pathogenic Congenital myopathy 4A, autosomal dominant 2005-01-01 no assertion criteria provided literature only
GeneReviews RCV000013259 SCV000041593 not provided Congenital myopathy 4B, autosomal recessive no assertion provided literature only
TPM3 homepage - Leiden Muscular Dystrophy pages RCV000128695 SCV000172335 not provided not provided no assertion provided not provided

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