ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.3923A>G (p.Asn1308Ser)

gnomAD frequency: 0.00004  dbSNP: rs777962427
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 RCV001909773 SCV002185640 likely benign Nemaline myopathy 2 2023-12-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003134230 SCV003811510 uncertain significance not provided 2019-03-05 criteria provided, single submitter clinical testing

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