ClinVar Miner

Submissions for variant NM_001352754.2(ARMC9):c.1474+1G>C

dbSNP: rs1114167448
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program, University of Washington RCV000491387 SCV000579398 pathogenic ARMC9-related Joubert syndrome 2017-05-01 no assertion criteria provided research
OMIM RCV000515484 SCV000611582 pathogenic Joubert syndrome 30 2017-08-16 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001034539 SCV001197900 likely pathogenic Familial aplasia of the vermis no assertion criteria provided research

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