ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2355T>C (p.Arg785=) (rs1555075801)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000584288 SCV000687378 likely benign Hereditary cancer-predisposing syndrome 2017-06-20 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586707 SCV000694218 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Invitae RCV000941954 SCV001087861 likely benign Ataxia-telangiectasia syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000584288 SCV001175932 likely benign Hereditary cancer-predisposing syndrome 2019-08-12 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign

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