ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3132-3T>C

dbSNP: rs2089821106
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197802 SCV001368581 uncertain significance Lymphangiomyomatosis 2018-12-03 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2.
Invitae RCV003512110 SCV004274613 likely benign Tuberous sclerosis 2 2023-07-24 criteria provided, single submitter clinical testing

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