ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.139-6C>T

gnomAD frequency: 0.00002  dbSNP: rs778516569
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457202 SCV000556465 benign Tuberous sclerosis 2 2023-12-14 criteria provided, single submitter clinical testing
GeneDx RCV001577665 SCV001805083 likely benign not provided 2021-03-26 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001577665 SCV002011354 likely benign not provided 2021-11-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000457202 SCV002041185 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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