ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.615C>G (p.Leu205=)

gnomAD frequency: 0.00001  dbSNP: rs1131561
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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 RCV002133971 SCV002453545 likely benign Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 2021-03-09 criteria provided, single submitter clinical testing

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