ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.12358C>T (p.Leu4120=)

dbSNP: rs1579062340
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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 RCV000981605 SCV001129581 likely benign Nemaline myopathy 2 2019-01-21 criteria provided, single submitter clinical testing

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