ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.5828T>A (p.Leu1943Gln)

dbSNP: rs531692437
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001039004 SCV001202510 likely benign Nemaline myopathy 2 2023-09-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001039004 SCV002079697 uncertain significance Nemaline myopathy 2 2021-01-21 no assertion criteria provided clinical testing

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