ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.665G>C (p.Trp222Ser)

gnomAD frequency: 0.00002  dbSNP: rs761385178
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662030 SCV000784366 uncertain significance Intellectual disability, autosomal dominant 29 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662031 SCV000784367 uncertain significance Schinzel-Giedion syndrome 2018-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060791 SCV002363934 benign not provided 2023-11-03 criteria provided, single submitter clinical testing

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