ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.854+1G>A

dbSNP: rs113367027
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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 RCV001328659 SCV001519824 uncertain significance Congenital myopathy 4B, autosomal recessive 2019-03-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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