Submissions for variant NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro)

gnomAD frequency: 0.38953  dbSNP: rs5956583

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249776	SCV000306926	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000614222	SCV000481627	benign	X-linked lymphoproliferative disease due to XIAP deficiency	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000249776	SCV000540682	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Eurofins Ntd Llc (ga)	RCV000249776	SCV000705118	benign	not specified	2018-04-05	criteria provided, single submitter	clinical testing
Mendelics	RCV000614222	SCV001142011	benign	X-linked lymphoproliferative disease due to XIAP deficiency	2019-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000614222	SCV001156968	benign	X-linked lymphoproliferative disease due to XIAP deficiency	2024-11-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000614222	SCV001722806	benign	X-linked lymphoproliferative disease due to XIAP deficiency	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001610609	SCV001838440	benign	not provided	2018-08-28	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29248579, 19877056)
Genome-Nilou Lab	RCV000614222	SCV002513988	benign	X-linked lymphoproliferative disease due to XIAP deficiency	2021-12-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002261025	SCV002542679	benign	Autoinflammatory syndrome	2022-01-14	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000249776	SCV004102348	benign	not specified	2023-11-12	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 34% of patients studied by a panel of primary immunodeficiencies. Number of patients: 33. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001610609	SCV005278030	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000614222	SCV000734739	benign	X-linked lymphoproliferative disease due to XIAP deficiency		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001610609	SCV001932687	likely benign	not provided		no assertion criteria provided	clinical testing
GenomeConnect, ClinGen	RCV001610609	SCV002074828	not provided	not provided		no assertion provided	phenotyping only	Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.