ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.5739-7_5739-6del

gnomAD frequency: 0.01173  dbSNP: rs72371423
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177765 SCV000229694 benign not specified 2014-11-14 criteria provided, single submitter clinical testing
Invitae RCV000951067 SCV001097429 benign not provided 2019-08-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000951067 SCV001157171 benign not provided 2023-11-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126567 SCV003802695 benign Seckel syndrome 1 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126568 SCV003802696 benign Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 2023-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977454 SCV004786492 benign ATR-related condition 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).

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