ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.2930A>G (p.Asp977Gly)

gnomAD frequency: 0.00001  dbSNP: rs1414304435
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 RCV001945321 SCV002194223 likely benign Nemaline myopathy 2 2024-01-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003134238 SCV003812246 uncertain significance not provided 2019-11-18 criteria provided, single submitter clinical testing

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