ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4138C>T (p.His1380Tyr) (rs3092856)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000710672 SCV000883426 benign not provided 2018-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000128897 SCV000172757 benign Hereditary cancer-predisposing syndrome 2014-11-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710672 SCV000840938 benign not provided 2017-09-05 criteria provided, single submitter clinical testing
Color RCV000128897 SCV000537385 benign Hereditary cancer-predisposing syndrome 2014-11-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120137 SCV000341032 benign not specified 2016-05-12 criteria provided, single submitter clinical testing
ITMI RCV000120137 SCV000084276 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000284881 SCV000367050 likely benign Ataxia-telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000284881 SCV000558328 benign Ataxia-telangiectasia syndrome 2017-08-18 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120137 SCV000301667 benign not specified criteria provided, single submitter clinical testing
True Health Diagnostics RCV000128897 SCV000787863 likely benign Hereditary cancer-predisposing syndrome 2017-11-14 no assertion criteria provided clinical testing

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