ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5208C>A (p.Tyr1736Ter)

dbSNP: rs45517410
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001781366 SCV002022445 pathogenic Tuberous sclerosis 2 2019-10-01 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042713 SCV000066508 not provided Tuberous sclerosis syndrome no assertion provided curation

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