ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.7839G>A (p.Pro2613=)

gnomAD frequency: 0.00011  dbSNP: rs371176601
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001460796 SCV001664675 likely benign not provided 2022-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002414103 SCV002669657 likely benign Inborn genetic diseases 2022-02-14 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 RCV003127931 SCV003802513 likely benign Seckel syndrome 1 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127932 SCV003802514 likely benign Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 2023-02-08 criteria provided, single submitter clinical testing

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