ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.8063A>G (p.His2688Arg)

gnomAD frequency: 0.00006  dbSNP: rs201119402
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000875362 SCV001017676 likely benign Nemaline myopathy 2 2024-07-17 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508089 SCV001714010 uncertain significance not provided 2020-11-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001508089 SCV003811614 likely benign not provided 2023-04-12 criteria provided, single submitter clinical testing
GeneDx RCV001508089 SCV004169156 uncertain significance not provided 2023-05-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published in association with NEB-related nemaline myopathy to our knowledge; This variant is associated with the following publications: (PMID: 28719003, 26740555)
Natera, Inc. RCV000875362 SCV001457001 uncertain significance Nemaline myopathy 2 2020-01-10 no assertion criteria provided clinical testing

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