ClinVar Miner

Submissions for variant NM_001072.4(UGT1A6):c.862-10021T>G

gnomAD frequency: 0.55614  dbSNP: rs4124874
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810854 SCV000605521 benign not provided 2022-08-19 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV000999557 SCV001426571 likely pathogenic Gilbert syndrome criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001810854 SCV004153499 benign not provided 2024-12-01 criteria provided, single submitter clinical testing UGT1A10: BS1, BS2; UGT1A3: BS1, BS2; UGT1A4: BS1, BS2; UGT1A5: BS1, BS2; UGT1A6: BS1, BS2; UGT1A7: BS1, BS2; UGT1A8: BS1, BS2; UGT1A9: BS1, BS2
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital RCV003883117 SCV004697479 uncertain significance Crigler-Najjar syndrome type 1; Lucey-Driscoll syndrome; Crigler-Najjar syndrome, type II criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000999557 SCV005368256 pathogenic Gilbert syndrome 2022-08-12 criteria provided, single submitter clinical testing Criteria applied: PS3,PS4,PM3
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005357115 SCV005919013 pathogenic UGT1A8-related condition 2023-07-07 criteria provided, single submitter research
OMIM RCV000013082 SCV000033328 risk factor Gilbert syndrome, susceptibility to 2004-11-01 no assertion criteria provided literature only
Difficult and Complicated Liver Diseases and Artificial Liver Center, Beijing You An Hospital, Capital Medical University RCV000999557 SCV001156250 pathogenic Gilbert syndrome 2019-05-01 no assertion criteria provided case-control
PreventionGenetics, part of Exact Sciences RCV003914830 SCV004733559 benign UGT1A9-related disorder 2023-01-16 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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