ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.60G>A (p.Leu20=)

gnomAD frequency: 0.00006  dbSNP: rs770751758
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001439008 SCV001641889 likely benign Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 2023-08-29 criteria provided, single submitter clinical testing

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