ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.18366+9G>A

gnomAD frequency: 0.00002  dbSNP: rs759834773
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 RCV000933283 SCV001078978 likely benign Nemaline myopathy 2 2025-01-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000933283 SCV001454689 uncertain significance Nemaline myopathy 2 2020-02-13 no assertion criteria provided clinical testing

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