ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3161C>G (p.Pro1054Arg) (rs1800057)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755214 SCV000602551 benign not provided 2017-06-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130988 SCV000185910 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Color RCV000130988 SCV000292102 benign Hereditary cancer-predisposing syndrome 2014-11-10 criteria provided, single submitter clinical testing
Counsyl RCV000119124 SCV000797292 benign Ataxia-telangiectasia syndrome 2018-01-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120131 SCV000227871 benign not specified 2015-02-09 criteria provided, single submitter clinical testing
ITMI RCV000120131 SCV000084270 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000119124 SCV000153838 benign Ataxia-telangiectasia syndrome 2017-08-21 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120131 SCV000301660 benign not specified criteria provided, single submitter clinical testing
True Health Diagnostics RCV000130988 SCV000787859 benign Hereditary cancer-predisposing syndrome 2018-01-25 no assertion criteria provided clinical testing

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