ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.125A>G (p.Tyr42Cys)

gnomAD frequency: 0.00003  dbSNP: rs756162358
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 RCV001245384 SCV001418668 likely benign Nemaline myopathy 2 2023-11-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001245384 SCV001465665 uncertain significance Nemaline myopathy 2 2020-10-29 no assertion criteria provided clinical testing

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