ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.3725+18A>G

gnomAD frequency: 0.03416  dbSNP: rs73864554
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001657830 SCV001872311 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Invitae RCV001657830 SCV002365731 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126520 SCV003801633 benign Seckel syndrome 1 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126521 SCV003801634 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 RCV003126521 SCV004015656 likely benign Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 2023-07-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000145304 SCV000192381 likely benign not specified no assertion criteria provided clinical testing

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