ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2331T>C (p.His777=) (rs139963953)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000118701 SCV000153116 likely benign not specified 2013-12-31 criteria provided, single submitter clinical testing
Invitae RCV000228368 SCV000285288 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000118701 SCV000515031 benign not specified 2015-05-11 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.
Ambry Genetics RCV000570561 SCV000675572 likely benign Hereditary cancer-predisposing syndrome 2016-10-08 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign);Co-occurence with mutation in same gene (phase unknown)
Illumina Clinical Services Laboratory,Illumina RCV001117541 SCV001275741 likely benign Tuberous sclerosis syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001200211 SCV001371111 likely benign not provided 2020-06-01 criteria provided, single submitter clinical testing

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