ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.339G>A (p.Lys113=)

gnomAD frequency: 0.00001  dbSNP: rs548951753
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603275 SCV000715728 likely benign not specified 2017-02-06 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 RCV003767481 SCV004578627 likely benign Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 2023-12-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980136 SCV004792395 likely benign TPM3-related disorder 2019-03-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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