ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.3433A>G (p.Ile1145Val)

gnomAD frequency: 0.00090  dbSNP: rs145853128
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862638 SCV001003166 likely benign not provided 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169098 SCV003910957 likely benign Inborn genetic diseases 2022-11-03 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.
PreventionGenetics, part of Exact Sciences RCV003975388 SCV004790585 likely benign ATR-related condition 2023-01-09 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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