ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.108C>T (p.Asp36=)

dbSNP: rs886063624
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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 RCV000397225 SCV000478265 uncertain significance Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000308243 SCV000478266 uncertain significance Isolated focal cortical dysplasia type II 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005090606 SCV005833519 likely benign Tuberous sclerosis 1 2024-09-04 criteria provided, single submitter clinical testing

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