ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.141G>A (p.Gly47=)

gnomAD frequency: 0.00025  dbSNP: rs146868426
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000875413 SCV001017733 benign not provided 2023-12-13 criteria provided, single submitter clinical testing
GeneDx RCV000875413 SCV001787985 likely benign not provided 2021-10-19 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316485 SCV004015446 likely benign Schinzel-Giedion syndrome 2023-07-07 criteria provided, single submitter clinical testing

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