ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.262T>C (p.Ser88Pro)

dbSNP: rs1558052214
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680129 SCV000807572 uncertain significance Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 2017-09-01 criteria provided, single submitter clinical testing This variant was found once in our laboratory de novo in a 3-year-old female with congenital hypotonia, fiber-type myopathy, developmental delay, myopathic facies, hyporefelxia, scoliosis.

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