Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000118354 | SCV000203575 | benign | not specified | 2013-12-11 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000118354 | SCV000311929 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV001095271 | SCV000464781 | benign | Sialic acid storage disease, severe infantile type | 2018-01-12 | 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Illumina Laboratory Services, |
RCV000297962 | SCV000464782 | benign | Salla disease | 2018-01-12 | 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Gene |
RCV000118354 | SCV000514634 | benign | not specified | 2015-11-09 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590335 | SCV000699338 | benign | not provided | 2017-02-08 | criteria provided, single submitter | clinical testing | Variant summary: The SLC17A5 c.246G>A (p.Ala82Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a polymorphism outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 11883/121310 control chromosomes (671 homozygotes) at a frequency of 0.0979557, which is approximately 41 times the estimated maximal expected allele frequency of a pathogenic SLC17A5 variant (0.0023717), strong evidence that this variant is a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Due to the synonymous nature of the variant, the lack of predicted effect on splicing and the high frequency in the contol population, this variant is classified as benign. |
Invitae | RCV000297962 | SCV001719101 | benign | Salla disease | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000297962 | SCV001762580 | benign | Salla disease | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001095271 | SCV001762581 | benign | Sialic acid storage disease, severe infantile type | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000118354 | SCV000152754 | 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, |
RCV000590335 | SCV000801550 | benign | not provided | 2017-04-19 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000297962 | SCV001453517 | benign | Salla disease | 2020-09-16 | no assertion criteria provided | clinical testing |