ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.776-8C>T

gnomAD frequency: 0.00001  dbSNP: rs760834004
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603742 SCV000721015 likely benign not specified 2017-07-11 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 RCV000960728 SCV001107741 likely benign Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 2023-12-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711215 SCV005262201 likely benign not provided criteria provided, single submitter not provided

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