ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) (rs1801673)

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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000122859 SCV000166117 benign Ataxia-telangiectasia syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000120145 SCV000167094 likely benign not specified 2014-02-28 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 RCV000128902 SCV000172763 benign Hereditary cancer-predisposing syndrome 2014-07-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000120145 SCV000301675 likely benign not specified criteria provided, single submitter clinical testing
Color RCV000128902 SCV000537379 benign Hereditary cancer-predisposing syndrome 2015-10-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000120145 SCV000593486 benign not specified 2018-07-30 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513231 SCV000608616 likely benign not provided 2019-11-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120145 SCV000701593 benign not specified 2016-09-27 criteria provided, single submitter clinical testing
Counsyl RCV000122859 SCV000800065 likely benign Ataxia-telangiectasia syndrome 2018-05-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000122859 SCV000883424 benign Ataxia-telangiectasia syndrome 2018-11-20 criteria provided, single submitter clinical testing
Mendelics RCV000122859 SCV001138522 likely benign Ataxia-telangiectasia syndrome 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000513231 SCV001143115 benign not provided 2019-01-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000122859 SCV001262761 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
ITMI RCV000120145 SCV000084285 not provided not specified 2013-09-19 no assertion provided reference population
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000122859 SCV000732994 likely benign Ataxia-telangiectasia syndrome no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000122859 SCV000745818 likely benign Ataxia-telangiectasia syndrome 2016-01-22 no assertion criteria provided clinical testing
True Health Diagnostics RCV000128902 SCV000787873 likely benign Hereditary cancer-predisposing syndrome 2017-11-14 no assertion criteria provided clinical testing

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