ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2193C>T (p.Tyr731=) (rs2229019)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000128878 SCV000172735 benign Hereditary cancer-predisposing syndrome 2014-11-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710665 SCV000840924 benign not provided 2018-05-30 criteria provided, single submitter clinical testing
Color RCV000128878 SCV000682039 benign Hereditary cancer-predisposing syndrome 2015-04-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000206183 SCV000367033 likely benign Ataxia-telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000206183 SCV000262430 benign Ataxia-telangiectasia syndrome 2018-01-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679102 SCV000805512 benign not specified 2015-09-14 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000128878 SCV000805211 likely benign Hereditary cancer-predisposing syndrome 2018-06-18 no assertion criteria provided clinical testing

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