ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.4383-47A>G

gnomAD frequency: 0.04498  dbSNP: rs58348002
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001610441 SCV001835296 benign not provided 2018-07-17 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315928 SCV004015645 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 RCV000145312 SCV000192389 likely benign not specified no assertion criteria provided clinical testing

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