ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5961T>G (p.Ser1987=) (rs1060504265)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465310 SCV000558298 likely benign Ataxia-telangiectasia syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575078 SCV000667902 likely benign Hereditary cancer-predisposing syndrome 2016-03-22 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
Color RCV000575078 SCV000687661 likely benign Hereditary cancer-predisposing syndrome 2017-08-04 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589346 SCV000694311 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing

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