ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.7411C>T (p.Leu2471=)

gnomAD frequency: 0.00041  dbSNP: rs150286172
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000868293 SCV001009604 likely benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381951 SCV002671619 likely benign Inborn genetic diseases 2022-02-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV003127524 SCV003802558 likely benign Seckel syndrome 1 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127525 SCV003802559 likely benign Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 2023-02-08 criteria provided, single submitter clinical testing

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