ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.13753A>G (p.Ile4585Val) (rs886038440)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000242655 SCV000307222 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000529547 SCV000640575 uncertain significance Nemaline myopathy 2 2018-01-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV000529547 SCV001456734 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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