ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.958+2dup

dbSNP: rs869312855
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Center for Mendelian Genomics, University of Washington RCV000201698 SCV000256237 pathogenic Interstitial lung disease 2 2015-05-19 criteria provided, single submitter research
Mayo Clinic Laboratories, Mayo Clinic RCV004791324 SCV005413384 pathogenic not provided 2024-05-31 criteria provided, single submitter clinical testing PP1_strong, PM2, PVS1_strong

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