Submissions for variant NM_001015877.2(PHF6):c.927C>T (p.Asp309=)

gnomAD frequency: 0.00809  dbSNP: rs112199174

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117905	SCV000152180	uncertain significance	not provided	2013-02-14	criteria provided, single submitter	clinical testing
Invitae	RCV001080165	SCV000631229	benign	Borjeson-Forssman-Lehmann syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312208	SCV000847121	benign	Inborn genetic diseases	2016-07-11	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.
GeneDx	RCV000117905	SCV001872195	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003982889	SCV004799721	benign	PHF6-related condition	2019-08-30	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).