ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.20342G>A (p.Arg6781His)

gnomAD frequency: 0.00002  dbSNP: rs752285938
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001844549 SCV002103618 uncertain significance not specified 2022-02-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002543310 SCV003275471 likely benign Nemaline myopathy 2 2023-10-16 criteria provided, single submitter clinical testing

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