ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3161C>G (p.Pro1054Arg) (rs1800057)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000119124 SCV000153838 benign Ataxia-telangiectasia syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130988 SCV000185910 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120131 SCV000227871 benign not specified 2015-02-09 criteria provided, single submitter clinical testing
Color RCV000130988 SCV000292102 benign Hereditary cancer-predisposing syndrome 2014-11-10 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000120131 SCV000301660 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000119124 SCV000602551 benign Ataxia-telangiectasia syndrome 2019-02-23 criteria provided, single submitter clinical testing
Counsyl RCV000119124 SCV000797292 benign Ataxia-telangiectasia syndrome 2018-01-19 criteria provided, single submitter clinical testing
Mendelics RCV000119124 SCV001138484 benign Ataxia-telangiectasia syndrome 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000119124 SCV001266174 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 RCV000120131 SCV000084270 not provided not specified 2013-09-19 no assertion provided reference population
True Health Diagnostics RCV000130988 SCV000787859 benign Hereditary cancer-predisposing syndrome 2018-01-25 no assertion criteria provided clinical testing

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