ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.426T>C (p.Asp142=)

dbSNP: rs200590080
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697375 SCV000718166 likely benign not provided 2018-05-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000920371 SCV001065733 likely benign Nemaline myopathy 2 2023-12-18 criteria provided, single submitter clinical testing

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