ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3883+6G>A

gnomAD frequency: 0.00006  dbSNP: rs757751865
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473752 SCV000544554 benign Tuberous sclerosis 2 2024-01-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091443 SCV001247497 likely benign not provided 2021-10-01 criteria provided, single submitter clinical testing
GeneDx RCV001091443 SCV001863314 likely benign not provided 2020-10-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000473752 SCV002039386 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255386 SCV002533462 likely benign Hereditary cancer-predisposing syndrome 2021-09-16 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001091443 SCV004221447 uncertain significance not provided 2010-08-16 criteria provided, single submitter clinical testing

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