ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.*5577C>T

gnomAD frequency: 0.00129  dbSNP: rs886045287
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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 RCV001795490 SCV000348332 uncertain significance Congenital myopathy with fiber type disproportion 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000385972 SCV000348333 uncertain significance Nemaline myopathy 2016-06-14 criteria provided, single submitter clinical testing

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