ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2865C>T (p.Thr955=) (rs45468995)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000152157 SCV000169095 benign not specified 2013-10-08 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152157 SCV000200857 likely benign not specified 2013-02-21 criteria provided, single submitter clinical testing Thr955Thr in exon 22 of TSC1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.2% (20/8600) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs45468995).
Ambry Genetics RCV000163343 SCV000213877 likely benign Hereditary cancer-predisposing syndrome 2014-11-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152157 SCV000227886 likely benign not specified 2014-07-29 criteria provided, single submitter clinical testing
Invitae RCV000857923 SCV000262139 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000152157 SCV000303867 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000042259 SCV000478187 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274884 SCV000478188 likely benign Focal cortical dysplasia type II 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000205209 SCV000677529 benign Tuberous sclerosis 1 2017-05-31 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000042259 SCV000066046 not provided Tuberous sclerosis syndrome no assertion provided curation

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