ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.12370G>A (p.Gly4124Ser) (rs1227592399)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544489 SCV000640519 uncertain significance Nemaline myopathy 2 2017-06-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV000544489 SCV001461924 uncertain significance Nemaline myopathy 2 2020-03-11 no assertion criteria provided clinical testing

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