ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2764_2765del (p.Leu922fs)

dbSNP: rs1555508929
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660344 SCV000782404 likely pathogenic Tuberous sclerosis 2 2016-11-01 criteria provided, single submitter clinical testing
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University RCV000660344 SCV002549088 pathogenic Tuberous sclerosis 2 2022-07-17 criteria provided, single submitter clinical testing
Donald Williams Parsons Laboratory, Baylor College of Medicine RCV000505584 SCV000599961 other Bone osteosarcoma 2016-05-01 no assertion criteria provided clinical testing

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