ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.*2719G>A

gnomAD frequency: 0.14345  dbSNP: rs11265201
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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 RCV000302033 SCV000348386 benign Nemaline myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001795900 SCV000348387 benign Congenital myopathy with fiber type disproportion 2016-06-14 criteria provided, single submitter clinical testing

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