Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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 |
RCV000116759 | SCV000230371 | benign | not specified | 2016-05-17 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000228160 | SCV000290388 | benign | Neuronal ceroid lipofuscinosis | 2025-02-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000116759 | SCV000313044 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
ARUP Laboratories, |
RCV000675962 | SCV000603088 | benign | not provided | 2023-10-06 | criteria provided, single submitter | clinical testing | |
Broad Center for Mendelian Genomics, |
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 | RCV000116759 | SCV001475015 | benign | not specified | 2024-10-04 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000116759 | SCV002050989 | benign | not specified | 2021-12-10 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000675962 | SCV002545288 | benign | not provided | 2025-03-01 | criteria provided, single submitter | clinical testing | CLN6: BP4, BS1, BS2 |
Ambry Genetics | RCV002336251 | SCV002634902 | benign | Inborn genetic diseases | 2018-09-24 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Genetic Services Laboratory, |
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, |
RCV000675962 | SCV000801691 | likely benign | not provided | 2018-01-05 | no assertion criteria provided | clinical testing | |
Translational Research Program on Neuronal Ceroid Lipofuscinosis, |
RCV000678439 | SCV000804306 | pathogenic | Ceroid lipofuscinosis, neuronal, 6A | no assertion criteria provided | research | Late Infantile NCL |