ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.7899A>G (p.Leu2633=)

gnomAD frequency: 0.00001  dbSNP: rs147649584
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001497032 SCV001701746 likely benign not provided 2023-12-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820204 SCV002071009 likely benign not specified 2020-02-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002421138 SCV002681079 likely benign Inborn genetic diseases 2022-02-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV003127971 SCV003802506 likely benign Seckel syndrome 1 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127972 SCV003802507 likely benign Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 2023-02-08 criteria provided, single submitter clinical testing

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