ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1208C>T (p.Ser403Leu) (rs118203504)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163452 SCV000213999 benign Hereditary cancer-predisposing syndrome 2016-09-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,Subpopulation frequency in support of benign classification,In silico models in agreement (benign),Other data supporting benign classification
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514892 SCV000609928 likely benign not provided 2017-08-23 criteria provided, single submitter clinical testing
GeneDx RCV000122186 SCV000243460 likely benign not specified 2017-12-07 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.
ITMI RCV000122186 SCV000086403 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000383299 SCV000478239 likely benign Focal cortical dysplasia type II 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000041998 SCV000478240 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000226529 SCV000284669 benign Tuberous sclerosis 1 2017-12-27 criteria provided, single submitter clinical testing
PreventionGenetics RCV000122186 SCV000303842 likely benign not specified criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000041998 SCV000065778 not provided Tuberous sclerosis syndrome no assertion provided curation

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