ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.600-15C>T

gnomAD frequency: 0.00006  dbSNP: rs369708731
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601818 SCV000720113 likely benign not specified 2017-06-13 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 RCV002054886 SCV002447953 likely benign Tuberous sclerosis 2 2025-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483082 SCV002794674 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-10-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000055313 SCV004823507 benign Tuberous sclerosis syndrome 2023-11-30 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV002054886 SCV005406207 benign Tuberous sclerosis 2 2024-09-05 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.
Tuberous sclerosis database (TSC2) RCV000055313 SCV000083533 not provided Tuberous sclerosis syndrome no assertion provided curation

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