ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.4641+9A>G

gnomAD frequency: 0.00015  dbSNP: rs369284360
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145314 SCV000192391 likely benign not specified 2014-04-18 criteria provided, single submitter clinical testing
Invitae RCV000863227 SCV001003852 likely benign not provided 2023-12-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126527 SCV003801542 benign Seckel syndrome 1 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126528 SCV003801543 benign Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 2023-02-08 criteria provided, single submitter clinical testing

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