ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.25089G>A (p.Ser8363=)

gnomAD frequency: 0.00001  dbSNP: rs766453942
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 RCV000543503 SCV000640751 likely benign Nemaline myopathy 2 2024-01-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000543503 SCV002083942 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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