Submissions for variant NM_000444.6(PHEX):c.10G>C (p.Glu4Gln)

gnomAD frequency: 0.00030  dbSNP: rs147859619

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	RCV000366699	SCV000267446	uncertain significance	Familial X-linked hypophosphatemic vitamin D refractory rickets	2016-03-18	criteria provided, single submitter	reference population
Illumina Laboratory Services, Illumina	RCV000366699	SCV000482137	likely benign	Familial X-linked hypophosphatemic vitamin D refractory rickets	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000435979	SCV000521205	likely benign	not specified	2016-07-26	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics	RCV000435979	SCV000614441	benign	not specified	2017-02-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002057060	SCV002437415	benign	not provided	2025-01-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955245	SCV004766663	likely benign	PHEX-related disorder	2019-10-14	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).