Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000224818 | SCV000281205 | likely benign | not provided | 2015-06-12 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
ARUP Laboratories, |
RCV003761833 | SCV000604099 | benign | Stüve-Wiedemann syndrome 1 | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000505869 | SCV000862038 | benign | not specified | 2018-06-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000224818 | SCV001103028 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000999980 | SCV001318857 | benign | Stuve-Wiedemann syndrome | 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. |
Gene |
RCV000224818 | SCV001868939 | benign | not provided | 2019-05-28 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28334964) |
Genome Diagnostics Laboratory, |
RCV002277581 | SCV002566888 | benign | Connective tissue disorder | 2022-02-10 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000505869 | SCV003844624 | benign | not specified | 2023-02-13 | criteria provided, single submitter | clinical testing | Variant summary: LIFR c.1937C>A (p.Thr646Asn) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0021 in 251466 control chromosomes, predominantly at a frequency of 0.026 within the African or African-American subpopulation in the gnomAD database, including 3 homozygotes. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 23 fold of the estimated maximal expected allele frequency for a pathogenic variant in LIFR causing Stuve-Wiedemann Syndrome phenotype (0.0011), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. To our knowledge, no occurrence of c.1937C>A in individuals affected with Stuve-Wiedemann Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Nine clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (likely pathogenic n=1, benign/likely benign n=8). Based on the evidence outlined above, the variant was classified as benign. |
Prevention |
RCV003919908 | SCV004735750 | likely benign | LIFR-related condition | 2019-06-04 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Weber Lab, |
RCV000491876 | SCV000346033 | uncertain significance | Congenital anomaly of kidney and urinary tract | 2024-02-15 | no assertion criteria provided | research | |
Natera, |
RCV000999980 | SCV002084261 | benign | Stuve-Wiedemann syndrome | 2019-11-15 | no assertion criteria provided | clinical testing |