Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000244554 | SCV000331433 | benign | not specified | 2016-08-23 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000280766 | SCV000346070 | likely benign | Glycogen storage disease type III | 2018-03-06 | 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. |
Gene |
RCV000244554 | SCV000518668 | benign | not specified | 2016-04-25 | 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. |
Laboratory for Molecular Medicine, |
RCV000244554 | SCV000538243 | likely benign | not specified | 2016-03-28 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in a patient with two other pathogenic variants, clinical significance is uncertain. Frequency 1.8%. |
Center for Pediatric Genomic Medicine, |
RCV000514363 | SCV000610904 | likely benign | not provided | 2017-08-29 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000280766 | SCV000626673 | benign | Glycogen storage disease type III | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000280766 | SCV000796705 | likely benign | Glycogen storage disease type III | 2017-12-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000514363 | SCV001147351 | benign | not provided | 2024-08-01 | criteria provided, single submitter | clinical testing | AGL: BS1, BS2 |
Genome- |
RCV000280766 | SCV002055528 | likely benign | Glycogen storage disease type III | 2021-07-15 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000514363 | SCV004563064 | benign | not provided | 2023-10-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003891857 | SCV000305379 | benign | AGL-related disorder | 2022-02-23 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Mayo Clinic Laboratories, |
RCV000514363 | SCV000800992 | likely benign | not provided | 2017-11-22 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000280766 | SCV001457972 | benign | Glycogen storage disease type III | 2019-12-31 | no assertion criteria provided | clinical testing |