ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.3799G>A (p.Val1267Ile) (rs377689383)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145306 SCV000192383 uncertain significance Seckel syndrome 1 2014-06-26 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764472 SCV000895539 uncertain significance Seckel syndrome 1; Cutaneous telangiectasia and cancer syndrome, familial 2018-10-31 criteria provided, single submitter clinical testing

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