ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.2079+8G>A (rs376867928)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000594198 SCV000706017 uncertain significance not provided 2017-02-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338497 SCV000348547 likely benign Symmetrical dyschromatosis of extremities 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000550614 SCV000652393 benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2017-10-12 criteria provided, single submitter clinical testing

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