ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.593T>C (p.Met198Thr) (rs45517114)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000455251 SCV000540607 uncertain significance not specified 2016-06-23 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 1 report
Tuberous sclerosis database (TSC2) RCV000042635 SCV000066430 not provided Tuberous sclerosis syndrome no assertion provided curation

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