ClinVar Miner

Submissions for variant NM_134261.3(RORA):c.626_627del (p.Pro209fs)

dbSNP: rs2141319872
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV001420339 SCV001622759 pathogenic See cases 2021-04-26 criteria provided, single submitter clinical testing PVS1_very strong;PM2_supporting;PM6_moderate
Provincial Medical Genetics Program of British Columbia, University of British Columbia RCV002070260 SCV002320822 uncertain significance Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 2022-01-01 criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV002276732 SCV002564518 likely pathogenic Neurodevelopmental disorder 2022-05-25 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital Muenster RCV001420339 SCV002577823 pathogenic See cases 2021-12-08 criteria provided, single submitter clinical testing ACMG categories: PVS1,PM2,PP5

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