ClinVar Miner

Submissions for variant NM_001366521.1(ATP2B1):c.458G>A (p.Trp153Ter)

dbSNP: rs2136193860
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Total submissions: 3
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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 RCV002226609 SCV002505603 likely pathogenic Neurodevelopmental disorder 2022-04-11 criteria provided, single submitter clinical testing Criteria applied: PVS1, PM2_SUP3
Institute of Human Genetics, University of Leipzig Medical Center RCV002260722 SCV005368211 likely pathogenic Intellectual developmental disorder, autosomal dominant 66 2024-10-01 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP
OMIM RCV002260722 SCV002540560 pathogenic Intellectual developmental disorder, autosomal dominant 66 2022-06-16 no assertion criteria provided literature only

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