ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.3726-47A>G

gnomAD frequency: 0.13934  dbSNP: rs73240314
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000833220 SCV000974981 benign not provided 2018-06-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315927 SCV004015601 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 RCV000145305 SCV000192382 likely benign not specified no assertion criteria provided clinical testing

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