ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.12977G>A (p.Arg4326His) (rs1429486273)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537476 SCV000640544 uncertain significance Nemaline myopathy 2 2017-06-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV000537476 SCV001460871 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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