ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.486+8C>T (rs149692285)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000116759 SCV000167769 benign not specified 2012-05-15 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116759 SCV000230371 benign not specified 2016-05-17 criteria provided, single submitter clinical testing
Invitae RCV000228160 SCV000290388 benign Neuronal ceroid lipofuscinosis 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000116759 SCV000313044 likely benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000116759 SCV000603088 benign not specified 2019-05-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000228160 SCV001274723 uncertain significance Neuronal ceroid lipofuscinosis 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genetic Services Laboratory, University of Chicago RCV000116759 SCV000150735 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.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675962 SCV000801691 likely benign not provided 2018-01-05 no assertion criteria provided clinical testing
Translational Research Program on Neuronal Ceroid Lipofuscinosis,Center for the Study of Inborn Errors of Metabolism RCV000678439 SCV000804306 pathogenic Neuronal ceroid lipofuscinosis 6 no assertion criteria provided research Late Infantile NCL

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