ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.4000+10T>A

gnomAD frequency: 0.10035  dbSNP: rs3786177
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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 RCV000147464 SCV000194900 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713191 SCV000843777 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Invitae RCV000713191 SCV002484712 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315934 SCV004015432 benign Schinzel-Giedion syndrome 2023-07-07 criteria provided, single submitter clinical testing

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