ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.4160C>T (p.Thr1387Met)

gnomAD frequency: 0.00004  dbSNP: rs200881888
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626931 SCV000747634 uncertain significance Seizure; Delayed speech and language development; Macrocephaly; Joint laxity; Generalized joint hypermobility 2017-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199253 SCV001370304 uncertain significance Intellectual disability, autosomal dominant 29 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001868164 SCV002205773 likely benign not provided 2024-10-24 criteria provided, single submitter clinical testing

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