ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.*107T>C (rs116917669)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000055025 SCV000478163 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357649 SCV000478164 likely benign Focal cortical dysplasia type II 2016-06-14 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000055025 SCV000083243 not provided Tuberous sclerosis syndrome no assertion provided curation

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