ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.340C>T (p.Leu114=)

gnomAD frequency: 0.00001  dbSNP: rs760913266
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433713 SCV000531561 likely benign not specified 2016-09-21 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002522492 SCV001021847 likely benign Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 2023-03-01 criteria provided, single submitter clinical testing

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