ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.544G>C (p.Val182Leu) (rs3218707)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131001 SCV000185925 benign Hereditary cancer-predisposing syndrome 2014-11-24 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000223988 SCV000280714 benign not provided 2014-09-15 criteria provided, single submitter clinical testing
Color RCV000131001 SCV000682266 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120166 SCV000231466 benign not specified 2015-03-30 criteria provided, single submitter clinical testing
GeneDx RCV000120166 SCV000167061 benign not specified 2013-10-25 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.
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000119106 SCV000745803 benign Ataxia-telangiectasia syndrome 2017-09-27 no assertion criteria provided clinical testing
ITMI RCV000120166 SCV000084308 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000119106 SCV000153817 benign Ataxia-telangiectasia syndrome 2018-01-17 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120166 SCV000805580 benign not specified 2017-02-17 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000131001 SCV000886664 likely benign Hereditary cancer-predisposing syndrome 2018-11-16 no assertion criteria provided clinical testing
Vantari Genetics RCV000131001 SCV000266237 likely benign Hereditary cancer-predisposing syndrome 2016-02-04 criteria provided, single submitter clinical testing

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