ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.4877A>G (p.His1626Arg)

gnomAD frequency: 0.00001  dbSNP: rs1374856817
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507568 SCV001713190 uncertain significance not provided 2020-11-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002564203 SCV003296800 likely benign Nemaline myopathy 2 2022-11-23 criteria provided, single submitter clinical testing

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