ClinVar Miner

Submissions for variant NM_015107.3(PHF8):c.2720G>A (p.Arg907His) (rs142630105)

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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 RCV000193434 SCV000248516 benign not specified 2016-06-21 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514435 SCV000609535 likely benign not provided 2017-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718055 SCV000848916 benign History of neurodevelopmental disorder 2018-02-01 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000514435 SCV001118990 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000990837 SCV001141883 likely benign Syndromic X-linked intellectual disability Siderius type 2019-05-28 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252343 SCV001428095 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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