ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.4234C>G (p.Arg1412Gly)

dbSNP: rs145996171
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002146351 SCV002468942 benign not provided 2023-10-06 criteria provided, single submitter clinical testing
GeneDx RCV002146351 SCV004024046 uncertain significance not provided 2023-02-02 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

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