ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.3301G>A (p.Val1101Ile)

gnomAD frequency: 0.10462  dbSNP: rs3744825
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147459 SCV000194895 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV001698659 SCV001916951 benign not provided 2018-08-31 criteria provided, single submitter clinical testing
Invitae RCV001698659 SCV002406021 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315932 SCV004015434 benign Schinzel-Giedion syndrome 2023-07-07 criteria provided, single submitter clinical testing

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