ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1322G>A (p.Trp441Ter)

dbSNP: rs45515894
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000013216 SCV001149972 pathogenic Tuberous sclerosis 2 2019-04-26 criteria provided, single submitter clinical testing
OMIM RCV000013216 SCV000033463 pathogenic Tuberous sclerosis 2 2009-09-01 no assertion criteria provided literature only
Tuberous sclerosis database (TSC2) RCV000043450 SCV000067258 not provided Tuberous sclerosis syndrome no assertion provided curation

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