ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.17898G>A (p.Pro5966=)

gnomAD frequency: 0.00013  dbSNP: rs376655029
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 RCV001419757 SCV001622018 likely benign Nemaline myopathy 2 2025-01-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001419757 SCV002076977 likely benign Nemaline myopathy 2 2021-09-15 no assertion criteria provided clinical testing

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