ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.2607C>T (p.Ser869=)

gnomAD frequency: 0.00011  dbSNP: rs74499808
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000964661 SCV001111890 benign not provided 2024-01-12 criteria provided, single submitter clinical testing
GeneDx RCV000964661 SCV001883846 benign not provided 2020-09-01 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316489 SCV004015442 likely benign Schinzel-Giedion syndrome 2023-07-07 criteria provided, single submitter clinical testing

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