ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1119+6G>C

gnomAD frequency: 0.00002  dbSNP: rs397515305
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001084211 SCV000766024 benign Tuberous sclerosis 2 2024-01-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000644331 SCV001150685 likely benign not provided 2018-10-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001084211 SCV002041302 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496736 SCV002804853 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2022-01-03 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000055151 SCV000083369 not provided Tuberous sclerosis syndrome no assertion provided curation

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