ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.1674+2T>C (rs1553603437)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664673 SCV000788674 likely pathogenic Nemaline myopathy 2 2018-02-16 criteria provided, single submitter clinical testing
Mendelics RCV000664673 SCV001135981 pathogenic Nemaline myopathy 2 2019-05-28 criteria provided, single submitter clinical testing

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