Submissions for variant NM_001184.4(ATR):c.5739-14_5739-9del

dbSNP: rs72272981

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177766	SCV000229695	benign	not specified	2014-11-14	criteria provided, single submitter	clinical testing
Invitae	RCV000951068	SCV001097430	benign	not provided	2019-08-16	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000951068	SCV001157172	benign	not provided	2023-11-02	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003126569	SCV003802697	benign	Seckel syndrome 1	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003126570	SCV003802698	benign	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	2023-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003967425	SCV004788000	benign	ATR-related disorder	2021-06-28	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).