ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.18144C>T (p.Asp6048=) (rs1319860549)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000872526 SCV001014350 likely benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000872526 SCV001454692 uncertain significance Nemaline myopathy 2 2020-02-13 no assertion criteria provided clinical testing

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