ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.2062G>A (p.Val688Ile)

gnomAD frequency: 0.00019  dbSNP: rs370618204
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001548186 SCV001768053 likely benign not provided 2020-09-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001548186 SCV002386539 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501885 SCV002804443 likely benign Schinzel-Giedion syndrome; Intellectual disability, autosomal dominant 29 2022-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039288 SCV004946255 likely benign Inborn genetic diseases 2023-11-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004734228 SCV005346109 likely benign SETBP1-related disorder 2024-08-23 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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