ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1840-13C>G

dbSNP: rs1186556063
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614206 SCV000722923 likely benign not specified 2017-09-14 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 RCV002065283 SCV002446325 likely benign Tuberous sclerosis 2 2024-10-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004802291 SCV005427107 likely benign Tuberous sclerosis syndrome 2024-02-22 criteria provided, single submitter clinical testing

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