ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.5898+25T>G

gnomAD frequency: 0.66679  dbSNP: rs7620648
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001539992 SCV001757824 benign not provided 2019-08-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001553948 SCV001775061 benign Seckel syndrome 1 2021-07-14 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315930 SCV004015579 likely benign Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001539992 SCV005302990 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000145324 SCV000192401 likely benign not specified no assertion criteria provided clinical testing

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