ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1438+6G>A (rs118203530)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427903 SCV000514996 likely benign not specified 2017-01-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000385329 SCV000478233 uncertain significance Focal cortical dysplasia type II 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000042029 SCV000478234 uncertain significance Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000227291 SCV000284675 benign Tuberous sclerosis 1 2018-01-03 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000042029 SCV000065811 not provided Tuberous sclerosis syndrome no assertion provided curation

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