ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.4671G>A (p.Lys1557=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002330513 SCV002634409 likely benign Inborn genetic diseases 2022-06-25 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 RCV003886575 SCV004704115 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing ATR: PM2:Supporting, BP4

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