ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.5055C>A (p.Thr1685=)

dbSNP: rs1575578013
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000964582 SCV001111804 likely benign Nemaline myopathy 2 2023-07-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV000964582 SCV002077691 likely benign Nemaline myopathy 2 2020-09-21 no assertion criteria provided clinical testing

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