ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.483G>A (p.Arg161=)

gnomAD frequency: 0.00001  dbSNP: rs150586027
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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 RCV000637293 SCV000758741 likely benign Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 2023-04-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965342 SCV004779559 likely benign TPM3-related disorder 2019-08-13 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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