ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.569dup (p.Tyr190Ter) (rs137854359)

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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 Inc RCV000201021 SCV000255917 pathogenic Tuberous sclerosis 2 2013-06-10 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043304 SCV000067110 not provided Tuberous sclerosis syndrome no assertion provided curation

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