ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.2917A>T (p.Ser973Cys)

dbSNP: rs2071375286
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332086 SCV001524288 uncertain significance Schinzel-Giedion syndrome 2019-08-29 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV001508827 SCV001715221 uncertain significance not provided 2019-04-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001508827 SCV004704207 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing SETBP1: PM2

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