ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1840-1G>A

dbSNP: rs397514953
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University RCV002266919 SCV002549084 pathogenic Tuberous sclerosis 2 2022-07-19 criteria provided, single submitter clinical testing This variant was detected only in the angiofibroma (skin tumor) of the patient as somatic mutation.
Tuberous sclerosis database (TSC2) RCV000055139 SCV000083357 not provided Tuberous sclerosis syndrome no assertion provided curation

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