ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.2915G>A (p.Arg972Gln)

gnomAD frequency: 0.00001  dbSNP: rs759901142
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001907732 SCV002133235 benign not provided 2023-10-16 criteria provided, single submitter clinical testing
GeneDx RCV001907732 SCV002521985 uncertain significance not provided 2022-05-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001907732 SCV003819359 uncertain significance not provided 2022-05-23 criteria provided, single submitter clinical testing

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