ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.4608A>C (p.Pro1536=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV005242478 SCV005890468 likely benign not provided 2025-01-01 criteria provided, single submitter clinical testing SETBP1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004539382 SCV004733584 likely benign SETBP1-related disorder 2021-12-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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