ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.36G>A (p.Leu12=)

gnomAD frequency: 0.00004  dbSNP: rs748116674
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001414360 SCV001616494 likely benign Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 2024-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000605694 SCV000715442 likely benign not specified 2018-03-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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