ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.5421A>G (p.Leu1807=)

dbSNP: rs773935656
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001435378 SCV001638199 likely benign not provided 2022-10-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350857 SCV002647925 likely benign Inborn genetic diseases 2022-04-10 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 RCV003127905 SCV003801455 likely benign Seckel syndrome 1 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127906 SCV003801456 likely benign Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 2023-02-08 criteria provided, single submitter clinical testing

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