ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.3513G>A (p.Arg1171=)

gnomAD frequency: 0.00002  dbSNP: rs1007131838
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002162608 SCV002415050 likely benign not provided 2021-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454479 SCV002616378 likely benign Inborn genetic diseases 2022-04-30 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 RCV003126164 SCV003801659 likely benign Seckel syndrome 1 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126165 SCV003801661 likely benign Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 2023-02-08 criteria provided, single submitter clinical testing

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