ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2546-6C>T

gnomAD frequency: 0.00006  dbSNP: rs372088609
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000458471 SCV000556485 likely benign Tuberous sclerosis 2 2025-01-21 criteria provided, single submitter clinical testing
GeneDx RCV000607327 SCV000726818 likely benign not specified 2018-01-12 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.
Genome-Nilou Lab RCV000458471 SCV002039211 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257737 SCV002531082 likely benign Hereditary cancer-predisposing syndrome 2021-11-25 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002496801 SCV002799470 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2022-05-31 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002056 SCV004828522 likely benign Tuberous sclerosis syndrome 2023-10-02 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000458471 SCV005404879 benign Tuberous sclerosis 2 2024-09-09 criteria provided, single submitter clinical testing This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.

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