ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.3184C>T (p.Arg1062Trp) (rs118203745)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189827 SCV000243479 likely benign not specified 2017-07-10 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.
Invitae RCV000858469 SCV000284718 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000227692 SCV000296908 uncertain significance Tuberous sclerosis 1 2015-08-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000189827 SCV000540598 uncertain significance not specified 2016-06-16 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: ClinVar: 1 LB; Reported in one proband, functional studies do not support pathogenicity
Ambry Genetics RCV000563572 SCV000675353 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Tuberous sclerosis database (TSC1) RCV000042266 SCV000066055 not provided Tuberous sclerosis syndrome no assertion provided curation

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