ClinVar Miner

Submissions for variant NM_001164507.2(NEB):c.21402C>T (p.Gly7134=)

gnomAD frequency: 0.00001  dbSNP: rs774372075
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 RCV001056461 SCV001220904 benign Nemaline myopathy 2 2023-12-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001056461 SCV002084067 uncertain significance Nemaline myopathy 2 2020-08-17 no assertion criteria provided clinical testing

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