ClinVar Miner

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

gnomAD frequency: 0.01234  dbSNP: rs149692285
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000675962 SCV000167769 benign not provided 2018-12-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21990111, 27535533)
Eurofins NTD LLC (GA) RCV000116759 SCV000230371 benign not specified 2016-05-17 criteria provided, single submitter clinical testing
Invitae RCV000228160 SCV000290388 benign Neuronal ceroid lipofuscinosis 2021-12-18 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 RCV000675962 SCV000603088 benign not provided 2020-02-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services,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.
Broad Institute Rare Disease Group, Broad Institute RCV001258279 SCV001435204 benign Agenesis of the corpus callosum with peripheral neuropathy criteria provided, single submitter research The heterozygous c.486+8C>T variant in CLN6 has been identified in 3 individuals with neuronal ceroid lipofuscinosis, including 2 individuals with no other variants identified in CLN6 (PMID: 21990111), but has been identified in >2% of European (Finnish) chromosomes and 14 homozygotes by ExAC (http://gnomad.broadinstitue.org/). In summary, this variant meets criteria to be classified as benign for autosomal recessive neuronal ceroid lipofuscinosis.
Athena Diagnostics Inc RCV000116759 SCV001475015 benign not specified 2020-09-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000116759 SCV002050989 benign not specified 2021-12-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000675962 SCV002545288 benign not provided 2022-05-01 criteria provided, single submitter clinical testing
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 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 Ceroid lipofuscinosis, neuronal, 6A no assertion criteria provided research Late Infantile NCL

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