Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000022289 | SCV000452723 | benign | Renal carnitine transport defect | 2018-01-13 | 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. |
Counsyl | RCV000022289 | SCV000799479 | benign | Renal carnitine transport defect | 2018-04-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001537411 | SCV001754295 | benign | not provided | 2018-06-23 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001804745 | SCV002051235 | benign | not specified | 2021-12-18 | criteria provided, single submitter | clinical testing | Variant summary: SLC22A5 c.-77G>A is located in the untranslated mRNA region upstream of the initiation codon. The variant allele was found at a frequency of 0.08 in 31310 control chromosomes in the gnomAD database, including 117 homozygotes. The observed variant frequency is approximately 17.62 fold of the estimated maximal expected allele frequency for a pathogenic variant in SLC22A5 causing Systemic Primary Carnitine Deficiency phenotype (0.0046), strongly suggesting that the variant is benign. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign. Based on the evidence outlined above, the variant was classified as benign. |
Genome- |
RCV000022289 | SCV002055864 | benign | Renal carnitine transport defect | 2021-07-15 | criteria provided, single submitter | clinical testing |