ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.3388C>A (p.Pro1130Thr)

gnomAD frequency: 0.09043  dbSNP: rs1064204
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147460 SCV000194896 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000147460 SCV000803553 benign not specified 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign - Stand Alone. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.
Athena Diagnostics Inc RCV000713189 SCV000843775 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
GeneDx RCV000713189 SCV001941873 benign not provided 2018-07-27 criteria provided, single submitter clinical testing
Invitae RCV000713189 SCV002402969 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315933 SCV004015431 benign Schinzel-Giedion syndrome 2023-07-07 criteria provided, single submitter clinical testing

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