ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.7547G>A (p.Arg2516Gln)

gnomAD frequency: 0.00001  dbSNP: rs753647278
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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 RCV001508091 SCV001714012 uncertain significance not provided 2020-06-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002567986 SCV003284463 likely benign Nemaline myopathy 2 2023-12-12 criteria provided, single submitter clinical testing

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