ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.3593C>T (p.Pro1198Leu)

gnomAD frequency: 0.00009  dbSNP: rs200960707
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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 RCV000886498 SCV001030007 benign not provided 2024-08-13 criteria provided, single submitter clinical testing
New York Genome Center RCV001291723 SCV001480309 uncertain significance Intellectual disability, autosomal dominant 29 2019-10-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004735863 SCV005354099 likely benign SETBP1-related disorder 2024-08-06 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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