ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.4205G>A (p.Arg1402Gln)

gnomAD frequency: 0.00001  dbSNP: rs371946489
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001906508 SCV002173982 likely benign not provided 2024-11-16 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001906508 SCV005408609 uncertain significance not provided 2024-05-01 criteria provided, single submitter clinical testing BP4_strong, PM2_moderate

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