ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.674C>T (p.Pro225Leu)

gnomAD frequency: 0.00002  dbSNP: rs770322824
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 RCV001297478 SCV001486495 likely benign Nemaline myopathy 2 2024-02-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001297478 SCV002077855 uncertain significance Nemaline myopathy 2 2020-11-17 no assertion criteria provided clinical testing

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