ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.*2893del

dbSNP: rs143549363
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000382418 SCV000478007 likely benign Isolated focal cortical dysplasia type II 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000054905 SCV000478008 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000054905 SCV000083120 not provided Tuberous sclerosis syndrome no assertion provided curation

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