ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5068+27_5069-47del (rs137854209)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000210536 SCV000266786 benign Tuberous sclerosis 2 2015-11-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000455128 SCV000540601 likely benign not specified 2016-03-28 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: Intronic del, ExAC: 0.4% (32/8548) East Asian chromosomes; No assertions in clinvar
GeneDx RCV000455128 SCV000565913 likely benign not specified 2015-10-28 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.
Tuberous sclerosis database (TSC2) RCV000055266 SCV000067096 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC2) RCV000055266 SCV000083485 not provided Tuberous sclerosis syndrome no assertion provided curation

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