ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.566+18C>G

gnomAD frequency: 0.00505  dbSNP: rs111368844
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251222 SCV000316145 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000251222 SCV000526417 benign not specified 2016-07-28 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 RCV002058419 SCV002459451 benign Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 2024-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002058419 SCV002798694 likely benign Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 2022-05-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713459 SCV005279933 benign not provided criteria provided, single submitter not provided

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