ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.1072-7G>A (rs149019571)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000116850 SCV000168061 benign not specified 2013-04-18 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 RCV001083725 SCV000287208 benign Neuronal ceroid lipofuscinosis 2020-12-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000614328 SCV000369554 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000614328 SCV000743666 benign Neuronal ceroid lipofuscinosis 10 2014-10-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116850 SCV000150924 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000614328 SCV000733013 likely benign Neuronal ceroid lipofuscinosis 10 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000614328 SCV000745772 likely benign Neuronal ceroid lipofuscinosis 10 2016-09-21 no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675950 SCV000801679 likely benign not provided 2017-12-01 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000116850 SCV001808902 benign not specified no assertion criteria provided clinical testing

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