Submissions for variant NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp)

dbSNP: rs1057520538

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000433434	SCV000515935	pathogenic	not provided	2023-03-29	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29307790, 27884935, 25985138, 25590979, 29180823)
Genetic Services Laboratory, University of Chicago	RCV000504219	SCV000595212	uncertain significance	not specified	2015-09-18	criteria provided, single submitter	clinical testing
Duke University Health System Sequencing Clinic, Duke University Health System	RCV000770790	SCV003919017	pathogenic	Intellectual disability, X-linked syndromic, Turner type	2023-04-20	criteria provided, single submitter	research
OMIM	RCV000770790	SCV000902278	pathogenic	Intellectual disability, X-linked syndromic, Turner type	2021-08-20	no assertion criteria provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000433434	SCV001743386	likely pathogenic	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000433434	SCV001807137	likely pathogenic	not provided		no assertion criteria provided	clinical testing