ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.2755C>G (p.His919Asp)

gnomAD frequency: 0.00001  dbSNP: rs373168257
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 RCV000641336 SCV000762977 likely benign Nemaline myopathy 2 2024-03-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000641336 SCV002077776 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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