ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.976-16C>T

gnomAD frequency: 0.00002  dbSNP: rs773016098
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002098426 SCV002399159 likely benign Tuberous sclerosis 2 2024-01-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507975 SCV002795569 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-12-06 criteria provided, single submitter clinical testing

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