ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.-11C>T

gnomAD frequency: 0.00004  dbSNP: rs570705364
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424228 SCV000523362 likely benign not specified 2016-01-26 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.
All of Us Research Program, National Institutes of Health RCV004000388 SCV004826275 likely benign Tuberous sclerosis syndrome 2023-10-27 criteria provided, single submitter clinical testing

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