ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.243+11GA[2]

dbSNP: rs146969764
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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 RCV000254286 SCV000316143 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000367493 SCV000348470 uncertain significance Nemaline myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001795467 SCV000348471 uncertain significance Congenital myopathy with fiber type disproportion 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001722357 SCV000571411 likely benign not provided 2018-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058418 SCV002362647 benign Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 2024-01-29 criteria provided, single submitter clinical testing

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