ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) (rs1801516)

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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131720 SCV000186760 benign Hereditary cancer-predisposing syndrome 2015-06-12 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000116427 SCV000229848 benign not specified 2015-05-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000116427 SCV000301674 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316554 SCV000367059 benign Ataxia-telangiectasia syndrome 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000116427 SCV000538367 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282608 SCV000602550 benign none provided 2020-08-24 criteria provided, single submitter clinical testing
Color Health, Inc RCV000131720 SCV000682273 benign Hereditary cancer-predisposing syndrome 2014-11-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710673 SCV000840944 benign not provided 2017-07-12 criteria provided, single submitter clinical testing
Invitae RCV000316554 SCV001000293 benign Ataxia-telangiectasia syndrome 2020-11-26 criteria provided, single submitter clinical testing
Mendelics RCV000316554 SCV001138521 benign Ataxia-telangiectasia syndrome 2019-05-28 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000316554 SCV001750400 benign Ataxia-telangiectasia syndrome 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000710673 SCV001886449 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25591549, 31382929, 28652578, 18502988, 24728327, 16914028, 27599564, 27153395, 17333338, 15756685, 22792358, 22529920, 20396981, 18465141, 17517479, 23585524, 24599715, 19147782, 17351744)
ITMI RCV000116427 SCV000084286 not provided not specified 2013-09-19 no assertion provided reference population
Genetic Services Laboratory, University of Chicago RCV000116427 SCV000150352 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000116427 SCV001742085 benign not specified no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute RCV000116427 SCV001906356 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000116427 SCV001920142 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000116427 SCV001958422 benign not specified no assertion criteria provided clinical testing

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