ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5069-14_5069-12del

dbSNP: rs397514923
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001470944 SCV001675044 likely benign Tuberous sclerosis 2 2025-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001566775 SCV001790345 likely benign not provided 2022-10-21 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genome-Nilou Lab RCV001470944 SCV002039899 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005007982 SCV005638951 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2024-02-20 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000055103 SCV000083321 not provided Tuberous sclerosis syndrome no assertion provided curation

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