ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2778A>G (p.Lys926=) (rs372569168)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163247 SCV000213774 likely benign Hereditary cancer-predisposing syndrome 2016-05-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000163247 SCV000906761 likely benign Hereditary cancer-predisposing syndrome 2016-08-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332678 SCV000367039 uncertain significance Ataxia-telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000332678 SCV000622358 likely benign Ataxia-telangiectasia syndrome 2017-06-25 criteria provided, single submitter clinical testing

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