ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.7543C>T (p.Leu2515=)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002393953 SCV002672050 likely benign Inborn genetic diseases 2022-03-04 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.
CeGaT Center for Human Genetics Tuebingen RCV003439007 SCV004148486 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing ATR: BP4, BP7
Invitae RCV003439007 SCV004277604 likely benign not provided 2023-11-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003896148 SCV004712664 likely benign ATR-related disorder 2023-06-13 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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