ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.*3248G>A

gnomAD frequency: 0.15247  dbSNP: rs12026177
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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 RCV001795898 SCV000348380 likely benign Congenital myopathy with fiber type disproportion 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000345474 SCV000348381 likely benign Nemaline myopathy 2016-06-14 criteria provided, single submitter clinical testing

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