ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4147_4163dup (p.Pro1389fs)

dbSNP: rs397515009
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000201100 SCV000255898 pathogenic Tuberous sclerosis 2 2012-08-13 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000055224 SCV000083443 not provided Tuberous sclerosis syndrome no assertion provided curation

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