ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.18809G>A (p.Arg6270Gln)

gnomAD frequency: 0.00012  dbSNP: rs372804439
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000801958 SCV000941764 benign Nemaline myopathy 2 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001580548 SCV001817512 uncertain significance not provided 2022-01-22 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001580548 SCV003811610 uncertain significance not provided 2021-10-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV000801958 SCV001461670 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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