ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2392-14G>A

gnomAD frequency: 0.00001  dbSNP: rs1057524717
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441731 SCV000536299 likely benign not specified 2017-01-17 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002063651 SCV002471489 likely benign Tuberous sclerosis 1 2025-01-08 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000590 SCV004822108 likely benign Tuberous sclerosis syndrome 2023-12-07 criteria provided, single submitter clinical testing

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