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

gnomAD frequency: 0.00233  dbSNP: rs142630105

Total submissions: 11

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	RCV002314841	SCV000848916	benign	Inborn genetic diseases	2018-02-01	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
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
GeneDx	RCV000514435	SCV001851438	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31691806)
CeGaT Center for Human Genetics Tuebingen	RCV000514435	SCV004166858	benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	PHF8: PP2, BP4, BS1, BS2
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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000193434	SCV001739921	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000514435	SCV001799109	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000514435	SCV001969955	likely benign	not provided		no assertion criteria provided	clinical testing