ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.3883G>A (p.Val1295Met)

gnomAD frequency: 0.00020  dbSNP: rs563768215
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720374 SCV001947424 benign not provided 2019-12-26 criteria provided, single submitter clinical testing
Invitae RCV001720374 SCV002481270 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316847 SCV004015450 likely benign Schinzel-Giedion syndrome 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001720374 SCV004698815 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing SETBP1: BP4, BS2

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