Submissions for variant NM_001184.4(ATR):c.2442A>G (p.Glu814=)

gnomAD frequency: 0.04528  dbSNP: rs55895932

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145297	SCV000192374	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000375217	SCV000441445	benign	Seckel syndrome 1	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.
Invitae	RCV001512537	SCV001719970	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001512537	SCV001852409	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000375217	SCV003801760	benign	Seckel syndrome 1	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003126515	SCV003801762	benign	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	2023-02-08	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003126515	SCV004016135	benign	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	2023-07-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003917439	SCV004733436	benign	ATR-related condition	2023-12-18	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).