ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.632T>C (p.Met211Thr) (rs2227928)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079600 SCV000111482 benign not specified 2013-07-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079600 SCV000192403 likely benign not specified 2013-04-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267092 SCV000441457 benign Seckel syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000079600 SCV000538379 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency

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