ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.*2147del

dbSNP: rs68185418
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001795904 SCV000348406 likely benign Congenital myopathy with fiber type disproportion 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000356169 SCV000348407 likely benign Nemaline myopathy 2016-06-14 criteria provided, single submitter clinical testing

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