ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) (rs1800058)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000119139 SCV000153854 benign Ataxia-telangiectasia syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000116425 SCV000167089 benign not specified 2013-10-15 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 RCV000130979 SCV000185896 uncertain significance Hereditary cancer-predisposing syndrome 2020-06-12 criteria provided, single submitter clinical testing See homoz.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000116425 SCV000257605 benign not specified 2015-07-15 criteria provided, single submitter clinical testing
Vantari Genetics RCV000130979 SCV000266991 benign Hereditary cancer-predisposing syndrome 2016-02-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000116425 SCV000301668 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000116425 SCV000332306 benign not specified 2015-06-16 criteria provided, single submitter clinical testing
Color RCV000130979 SCV000537361 benign Hereditary cancer-predisposing syndrome 2014-11-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000119139 SCV000602559 benign Ataxia-telangiectasia syndrome 2018-08-02 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000119139 SCV000743727 likely benign Ataxia-telangiectasia syndrome 2014-10-09 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000130979 SCV000803143 likely benign Hereditary cancer-predisposing syndrome 2018-05-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000119139 SCV001263901 likely benign 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ITMI RCV000116425 SCV000084277 not provided not specified 2013-09-19 no assertion provided reference population
Genetic Services Laboratory,University of Chicago RCV000116425 SCV000150350 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.
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000119139 SCV000745813 benign Ataxia-telangiectasia syndrome 2015-10-05 no assertion criteria provided clinical testing
True Health Diagnostics RCV000130979 SCV000787864 benign Hereditary cancer-predisposing syndrome 2018-02-20 no assertion criteria provided clinical testing

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