Submissions for variant NM_015107.3(PHF8):c.2790CTC[2] (p.Ser933del)

dbSNP: rs782660284

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514055	SCV000610353	likely benign	not provided	2017-08-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311832	SCV000847306	benign	Inborn genetic diseases	2017-03-21	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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	RCV000514055	SCV001033586	benign	not provided	2018-10-02	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821441	SCV002067806	benign	not specified	2019-11-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003942675	SCV004760250	benign	PHF8-related condition	2020-03-17	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).