ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2261del (p.Pro754fs)

dbSNP: rs137854021
Minimum review status: Collection method:
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001781367 SCV002022447 pathogenic Tuberous sclerosis 2 2020-04-15 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042973 SCV000066770 not provided Tuberous sclerosis syndrome no assertion provided curation

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