ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4569+12C>T (rs45517350)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514983 SCV000609911 uncertain significance not provided 2017-05-19 criteria provided, single submitter clinical testing
GeneDx RCV000608845 SCV000716399 likely benign not specified 2017-03-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000043122 SCV000395658 uncertain significance Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043122 SCV000066921 not provided Tuberous sclerosis syndrome no assertion provided curation

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