ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.609C>T (p.Asp203=) (rs144709948)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000122866 SCV000166124 benign Ataxia-telangiectasia syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000211950 SCV000167062 benign not specified 2014-01-20 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 RCV000123719 SCV000213018 likely benign Hereditary cancer-predisposing syndrome 2014-06-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000211950 SCV000301679 likely benign not specified criteria provided, single submitter clinical testing
Color RCV000123719 SCV000682306 benign Hereditary cancer-predisposing syndrome 2016-04-18 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000122866 SCV000745121 likely benign Ataxia-telangiectasia syndrome 2017-10-31 criteria provided, single submitter clinical testing
Counsyl RCV000122866 SCV000793299 likely benign Ataxia-telangiectasia syndrome 2017-08-09 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679133 SCV000805594 likely benign not provided 2015-06-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000679133 SCV000840949 benign not provided 2019-01-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000679133 SCV000885038 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Mendelics RCV000122866 SCV001138438 likely benign Ataxia-telangiectasia syndrome 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000679133 SCV001148399 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000122866 SCV001262431 uncertain significance Ataxia-telangiectasia syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000122866 SCV000732987 likely benign Ataxia-telangiectasia syndrome no assertion criteria provided clinical testing
True Health Diagnostics RCV000123719 SCV000787876 likely benign Hereditary cancer-predisposing syndrome 2017-10-30 no assertion criteria provided clinical testing

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