ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.160C>T (p.Arg54Cys)

dbSNP: rs1325528399
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774435 SCV002002284 uncertain significance not provided 2020-01-27 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001774435 SCV002174837 likely benign not provided 2024-09-29 criteria provided, single submitter clinical testing

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