ClinVar Miner

Submissions for variant NM_001272071.2(AP1S2):c.-1+1G>A

dbSNP: rs1934288587
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurogenetics Research Program, University of Adelaide RCV001194623 SCV001338857 pathogenic Pettigrew syndrome 2020-01-29 criteria provided, single submitter research
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology RCV001194623 SCV001832225 likely pathogenic Pettigrew syndrome criteria provided, single submitter clinical testing PVS1, PM2

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