ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1443+15G>A

gnomAD frequency: 0.00020  dbSNP: rs182743311
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433797 SCV000515022 benign not specified 2015-04-01 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.
Invitae RCV002061550 SCV002464680 benign Tuberous sclerosis 2 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488891 SCV002798566 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-10-28 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV002061550 SCV004016169 benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing

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