ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.-129A>T (rs116951280)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000379999 SCV000478276 likely benign Focal cortical dysplasia type II 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000054898 SCV000478277 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713903 SCV000844544 benign not provided 2017-11-30 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000054898 SCV000083113 not provided Tuberous sclerosis syndrome no assertion provided curation

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