ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.4234C>A (p.Arg1412=)

gnomAD frequency: 0.00073  dbSNP: rs145996171
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518404 SCV000615152 benign not specified 2017-05-08 criteria provided, single submitter clinical testing
GeneDx RCV001690085 SCV001913045 benign not provided 2020-09-11 criteria provided, single submitter clinical testing
Invitae RCV001690085 SCV002488851 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001690085 SCV004143028 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing SETBP1: BP4, BS1

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