ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.9047G>A (p.Arg3016Gln)

gnomAD frequency: 0.00048  dbSNP: rs373587647
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519197 SCV000619983 uncertain significance not provided 2022-03-23 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 as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000556075 SCV000640886 benign Nemaline myopathy 2 2024-01-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000519197 SCV003810205 uncertain significance not provided 2023-02-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000519197 SCV005187949 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV000556075 SCV001454971 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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