ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.-80-10T>C

dbSNP: rs886063625
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000319431 SCV000478272 uncertain significance Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000355602 SCV000478273 uncertain significance Isolated focal cortical dysplasia type II 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002394 SCV001160315 likely benign not specified 2018-07-22 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257662 SCV002531486 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-04 criteria provided, single submitter curation

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