Submissions for variant NM_001184.4(ATR):c.1815T>C (p.Asp605=)

gnomAD frequency: 0.33689  dbSNP: rs2227929

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145292	SCV000192369	benign	not specified	2013-07-02	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000145292	SCV000202208	benign	not specified	2013-12-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000350591	SCV000441450	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	RCV001520182	SCV001729235	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001520182	SCV001847397	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000350591	SCV003801841	benign	Seckel syndrome 1	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003126513	SCV003801842	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	RCV003126513	SCV004015523	benign	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	2023-07-07	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000145292	SCV001740865	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000145292	SCV001974863	benign	not specified		no assertion criteria provided	clinical testing