ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.2322A>G (p.Ala774=)

dbSNP: rs2145104146
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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 RCV002263121 SCV002546006 uncertain significance not provided 2022-06-01 criteria provided, single submitter clinical testing SETBP1: PM2:Supporting, BP4
3billion RCV004729124 SCV005329094 likely benign Schinzel-Giedion syndrome; Intellectual disability, autosomal dominant 29 2024-09-20 criteria provided, single submitter clinical testing The variant was identified in at least one patient who was diagnosed with a different variant in another gene and showed no symptoms related to the gene containing the variant in question.

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