Submissions for variant NM_001143992.2(WRAP53):c.202C>G (p.Arg68Gly)

gnomAD frequency: 0.32078  dbSNP: rs2287499

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000253368	SCV000313144	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000989732	SCV000407085	benign	Dyskeratosis congenita, autosomal recessive 3	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000354405	SCV000483680	benign	Li-Fraumeni syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000253368	SCV000540674	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, variant associated with breast cancer
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000253368	SCV000605618	benign	not specified	2016-09-13	criteria provided, single submitter	clinical testing
Mendelics	RCV000989732	SCV001140275	benign	Dyskeratosis congenita, autosomal recessive 3	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV001516489	SCV001724777	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001516489	SCV001882477	benign	not provided	2018-07-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25134915, 17683073)
Ambry Genetics	RCV002418084	SCV002721828	benign	Dyskeratosis congenita	2014-12-17	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.
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000253368	SCV004233662	benign	not specified	2024-01-24	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 29% of patients studied by a panel of primary immunodeficiencies. Number of patients: 28. Only high quality variants are reported.