ClinVar Miner

Submissions for variant NM_020745.4(AARS2):c.2611dup (p.Thr871fs)

dbSNP: rs749666514
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003322703 SCV004027750 pathogenic Leukoencephalopathy, progressive, with ovarian failure 2023-05-17 criteria provided, single submitter clinical testing Criteria applied: PVS1, PM3, PM2_SUP
CeGaT Center for Human Genetics Tuebingen RCV003992762 SCV004811244 pathogenic not provided 2024-03-01 criteria provided, single submitter clinical testing AARS2: PVS1, PM3:Strong, PM2

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