ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.465T>C (p.Thr155=) (rs11555039)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000116856 SCV000168079 benign not specified 2013-06-19 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.
PreventionGenetics,PreventionGenetics RCV000116856 SCV000308526 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000625344 SCV000369566 benign Neuronal ceroid lipofuscinosis 10 2018-01-13 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625344 SCV000745011 benign Neuronal ceroid lipofuscinosis 10 2015-09-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000675955 SCV000841681 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715173 SCV000846001 benign Seizures 2016-03-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000116856 SCV000150930 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625344 SCV000745777 benign Neuronal ceroid lipofuscinosis 10 2017-09-01 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675955 SCV000801684 benign not provided 2015-12-15 no assertion criteria provided clinical testing

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