ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.535C>T (p.Arg179Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003142465 SCV003806920 likely pathogenic Congenital myopathy with fiber type disproportion 2022-09-16 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PM5 moderated, PP3 supporting, PP4

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