ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2837+11dup

gnomAD frequency: 0.00022  dbSNP: rs137854204
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002054862 SCV002474748 likely benign Tuberous sclerosis 2 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496684 SCV002807356 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-07-25 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043403 SCV000067209 not provided Tuberous sclerosis syndrome no assertion provided curation

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