ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.657T>C (p.Cys219=) (rs2235003)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129174 SCV000183907 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710677 SCV000840953 benign not provided 2017-11-10 criteria provided, single submitter clinical testing
Color RCV000129174 SCV000537402 benign Hereditary cancer-predisposing syndrome 2015-04-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116429 SCV000150354 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.
Illumina Clinical Services Laboratory,Illumina RCV000206853 SCV000367022 likely benign Ataxia-telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000206853 SCV000262252 benign Ataxia-telangiectasia syndrome 2018-01-16 criteria provided, single submitter clinical testing
PreventionGenetics RCV000116429 SCV000301682 benign not specified criteria provided, single submitter clinical testing
True Health Diagnostics RCV000129174 SCV000787877 likely benign Hereditary cancer-predisposing syndrome 2017-09-11 no assertion criteria provided clinical testing

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