Submissions for variant NM_001143992.2(WRAP53):c.936C>T (p.Cys312=)

gnomAD frequency: 0.00565  dbSNP: rs73248508

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000366576	SCV000407095	benign	Dyskeratosis congenita, autosomal recessive 3	2018-01-13	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.
Genetic Services Laboratory, University of Chicago	RCV000502472	SCV000597986	benign	not specified	2019-07-18	criteria provided, single submitter	clinical testing
Invitae	RCV000957540	SCV001104347	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000957540	SCV001816638	likely benign	not provided	2019-04-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002446585	SCV002682349	likely benign	Dyskeratosis congenita	2022-02-20	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000502472	SCV001928970	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000502472	SCV001974398	benign	not specified		no assertion criteria provided	clinical testing