ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) (rs4986761)

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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000116422 SCV000602556 benign not specified 2016-08-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000128903 SCV000172764 benign Hereditary cancer-predisposing syndrome 2014-07-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710664 SCV000840922 benign not provided 2017-08-11 criteria provided, single submitter clinical testing
Color RCV000128903 SCV000292112 benign Hereditary cancer-predisposing syndrome 2014-12-04 criteria provided, single submitter clinical testing
Counsyl RCV000119131 SCV000789947 likely benign Ataxia-telangiectasia syndrome 2017-02-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000119131 SCV000732990 benign Ataxia-telangiectasia syndrome no assertion criteria provided clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000116422 SCV000296849 benign not specified 2015-10-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116422 SCV000225743 benign not specified 2015-02-26 criteria provided, single submitter clinical testing
GeneDx RCV000116422 SCV000167069 benign not specified 2013-09-04 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.
Genetic Services Laboratory, University of Chicago RCV000116422 SCV000150347 benign not specified 2017-05-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000119131 SCV000743722 likely benign Ataxia-telangiectasia syndrome 2014-10-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000119131 SCV000745808 likely benign Ataxia-telangiectasia syndrome 2015-11-08 no assertion criteria provided clinical testing
ITMI RCV000116422 SCV000084257 not provided not specified 2013-09-19 no assertion provided reference population
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000128903 SCV000679689 likely benign Hereditary cancer-predisposing syndrome 2018-05-23 criteria provided, single submitter clinical testing
Invitae RCV000119131 SCV000153845 benign Ataxia-telangiectasia syndrome 2018-01-11 criteria provided, single submitter clinical testing
PreventionGenetics RCV000116422 SCV000805511 benign not specified 2016-10-10 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000128903 SCV000787849 likely benign Hereditary cancer-predisposing syndrome 2018-01-12 no assertion criteria provided clinical testing

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