ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.*1247dup

dbSNP: rs72189266
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001795906 SCV000348426 benign Congenital myopathy with fiber type disproportion 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000369925 SCV000348427 benign Nemaline myopathy 2016-06-14 criteria provided, single submitter clinical testing

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