ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1004C>G (p.Ser335Cys) (rs45517144)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202762 SCV000257717 uncertain significance Tuberous sclerosis 2 2015-07-10 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042915 SCV000066711 not provided Tuberous sclerosis syndrome no assertion provided curation

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