ClinVar Miner

Submissions for variant NM_015107.3(PHF8):c.2258G>A (p.Arg753Gln)

gnomAD frequency: 0.00001  dbSNP: rs1263803925
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662041 SCV000784377 uncertain significance Syndromic X-linked intellectual disability Siderius type 2018-03-05 criteria provided, single submitter clinical testing
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ RCV000662041 SCV004037295 uncertain significance Syndromic X-linked intellectual disability Siderius type 2022-06-29 criteria provided, single submitter clinical testing

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