ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.201A>G (p.Pro67=) (rs371555137)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125623 SCV000169080 benign not specified 2014-02-05 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 RCV001082445 SCV000284688 benign Tuberous sclerosis 1 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000125623 SCV000303856 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000567969 SCV000675371 likely benign Hereditary cancer-predisposing syndrome 2015-08-21 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731870 SCV000859732 uncertain significance not provided 2018-03-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000125623 SCV000966545 likely benign not specified 2013-02-21 criteria provided, single submitter clinical testing Pro67Pro in exon 4 of TSC1: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 2/8600 European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS).

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