ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.2310G>A (p.Ala770=)

gnomAD frequency: 0.00019  dbSNP: rs373845529
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV002115050 SCV002448187 likely benign not provided 2025-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002115050 SCV004143013 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing SETBP1: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV002115050 SCV005215318 likely benign not provided criteria provided, single submitter not provided
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV005235636 SCV005881305 benign Schinzel-Giedion syndrome 2025-02-01 criteria provided, single submitter clinical testing

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