ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1444-13T>C

gnomAD frequency: 0.00002  dbSNP: rs45447093
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703937 SCV000515761 likely benign not provided 2018-12-06 criteria provided, single submitter clinical testing
Invitae RCV002054851 SCV002374770 likely benign Tuberous sclerosis 2 2024-01-11 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043009 SCV000066807 not provided Tuberous sclerosis syndrome no assertion provided curation

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