ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6995T>C (p.Leu2332Pro) (rs4988111)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000128891 SCV000172751 benign Hereditary cancer-predisposing syndrome 2014-11-25 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224405 SCV000281631 likely benign not provided 2016-02-11 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Color RCV000128891 SCV000682382 benign Hereditary cancer-predisposing syndrome 2014-11-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120156 SCV000703941 benign not specified 2016-12-01 criteria provided, single submitter clinical testing
GeneDx RCV000120156 SCV000167054 benign not specified 2013-10-01 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.
ITMI RCV000120156 SCV000084297 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000206246 SCV000262433 benign Ataxia-telangiectasia syndrome 2018-01-06 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120156 SCV000805611 benign not specified 2016-10-21 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000128891 SCV000805220 likely benign Hereditary cancer-predisposing syndrome 2018-06-18 no assertion criteria provided clinical testing

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