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: 4
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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
Breakthrough Genomics, Breakthrough Genomics RCV000833220 SCV005303000 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000145305 SCV000192382 likely benign not specified no assertion criteria provided clinical testing

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