ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.3224C>A (p.Ala1075Asp)

gnomAD frequency: 0.00001  dbSNP: rs574309369
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 RCV001359666 SCV001555543 likely benign Nemaline myopathy 2 2023-11-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001359666 SCV002077749 uncertain significance Nemaline myopathy 2 2021-09-06 no assertion criteria provided clinical testing

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