Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000675965 | SCV000167774 | benign | not provided | 2018-12-12 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 21990111, 29482223) |
Eurofins Ntd Llc |
RCV000173024 | SCV000202487 | benign | not specified | 2015-01-29 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000173024 | SCV000247043 | likely benign | not specified | 2015-04-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000989355 | SCV000290387 | benign | Neuronal ceroid lipofuscinosis | 2024-02-01 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000675965 | SCV000603089 | benign | not provided | 2023-11-22 | criteria provided, single submitter | clinical testing | |
SIB Swiss Institute of Bioinformatics | RCV000677327 | SCV000803558 | benign | Ceroid lipofuscinosis, neuronal, 6A | 2018-05-31 | criteria provided, single submitter | curation | This variant is interpreted as a Benign, for Ceroid lipofuscinosis, neuronal, 6, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age. |
Ambry Genetics | RCV002312552 | SCV000846696 | benign | Inborn genetic diseases | 2017-05-24 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: 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. |
Mendelics | RCV000989355 | SCV001139646 | benign | Neuronal ceroid lipofuscinosis | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000989355 | SCV001278035 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000173024 | SCV002050988 | likely benign | not specified | 2021-12-10 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000675965 | SCV002822193 | benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | CLN6: PP3, BS1, BS2 |
Center for Genomics, |
RCV003224161 | SCV003919810 | likely benign | Ceroid lipofuscinosis, neuronal, 6A; Ceroid lipofuscinosis, neuronal, 6B (Kufs type) | 2021-11-01 | criteria provided, single submitter | clinical testing | CLN6 NM_017882.2 p.Ala12Thr (c.34G>A): This variant has been reported in the literature in at least 2 individuals (1 with neuronal ceroid lipofuscinosis and 1 with cerebellar ataxia) (Kousi 2012 PMID:21990111, Coutelier 2018 PMID:29482223). However, this variant is present in 1.7% (1216/67944) of European alleles including 11 homozygotes in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/15-68229551-C-T?dataset=gnomad_r3). Evolutionary conservation and computational predictive tools for this variant are unclear. This variant is present in ClinVar, with several labs classifying this variant as Likely Benign or Benign (Variation ID:136802). In summary, data on this variant suggests that this variant does not cause disease, but requires further evidence. Therefore this variant is classified as likely benign. |
Mayo Clinic Laboratories, |
RCV000675965 | SCV000801694 | uncertain significance | not provided | 2017-04-19 | no assertion criteria provided | clinical testing | |
Diagnostic Laboratory, |
RCV000675965 | SCV001739970 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000675965 | SCV001928319 | likely benign | not provided | no assertion criteria provided | clinical testing |