ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.*4203G>A

gnomAD frequency: 0.00004  dbSNP: rs886045299
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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 RCV001795895 SCV000348364 uncertain significance Congenital myopathy with fiber type disproportion 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000396919 SCV000348365 uncertain significance Nemaline myopathy 2016-06-14 criteria provided, single submitter clinical testing

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