ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.18327G>T (p.Glu6109Asp)

dbSNP: rs2096323303
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001248086 SCV001421551 uncertain significance Nemaline myopathy 2 2021-08-30 criteria provided, single submitter clinical testing

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