ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.3618T>C (p.His1206=)

gnomAD frequency: 0.00689  dbSNP: rs34882016
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000870737 SCV001012273 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001287946 SCV001474716 benign not specified 2020-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000870737 SCV001888126 benign not provided 2018-11-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001287946 SCV002067386 benign not specified 2017-12-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000870737 SCV002563467 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing SETBP1: BP4, BS2
Fulgent Genetics, Fulgent Genetics RCV002502260 SCV002799347 likely benign Schinzel-Giedion syndrome; Intellectual disability, autosomal dominant 29 2022-04-06 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316491 SCV004015439 likely benign Schinzel-Giedion syndrome 2023-07-07 criteria provided, single submitter clinical testing

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