ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6235G>A (p.Val2079Ile) (rs1800060)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000120153 SCV000167097 benign not specified 2013-10-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000129115 SCV000183830 benign Hereditary cancer-predisposing syndrome 2014-07-14 criteria provided, single submitter clinical testing
Invitae RCV000710675 SCV000262363 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000120153 SCV000301680 benign not specified criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000120153 SCV000593487 likely benign not specified 2017-05-30 criteria provided, single submitter clinical testing
Color RCV000129115 SCV000682316 benign Hereditary cancer-predisposing syndrome 2014-12-16 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000205191 SCV000743732 likely benign Ataxia-telangiectasia syndrome 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000205191 SCV000745130 benign Ataxia-telangiectasia syndrome 2016-06-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710675 SCV000840951 benign not provided 2017-06-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000710675 SCV000883425 benign not provided 2017-08-21 criteria provided, single submitter clinical testing
ITMI RCV000120153 SCV000084294 not provided not specified 2013-09-19 no assertion provided reference population
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000205191 SCV000745819 benign Ataxia-telangiectasia syndrome 2017-06-18 no assertion criteria provided clinical testing

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