Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082714 | SCV000114758 | benign | not specified | 2013-04-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000082714 | SCV000316758 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000325033 | SCV000444461 | benign | Multiple sulfatase deficiency | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000082714 | SCV000918295 | benign | not specified | 2017-12-29 | criteria provided, single submitter | clinical testing | Variant summary: The SUMF1 c.1116T>C (p.Thr372Thr) variant involves the alteration of a non-conserved nucleotide causes a synonymous change and 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may alter ESE binding. This variant was found in 176669/274930 control chromosomes (58685 homozygotes)(gnomAD) at a frequency of 0.6425963, which is approximately 575 times the estimated maximal expected allele frequency of a pathogenic SUMF1 variant (0.001118). The observed frequency the C allele, 0.64, indicates the variant of interest to be the major allele (allele more commonly observed in the general population). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign. |
Labcorp Genetics |
RCV000325033 | SCV001728601 | benign | Multiple sulfatase deficiency | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Pars Genome Lab | RCV000325033 | SCV001738670 | benign | Multiple sulfatase deficiency | 2021-06-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000675756 | SCV001867365 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000325033 | SCV002062298 | benign | Multiple sulfatase deficiency | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000675756 | SCV005245518 | benign | not provided | criteria provided, single submitter | not provided | ||
Mayo Clinic Laboratories, |
RCV000675756 | SCV000801476 | benign | not provided | 2015-10-22 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000325033 | SCV001460167 | benign | Multiple sulfatase deficiency | 2020-09-16 | no assertion criteria provided | clinical testing | |
Diagnostic Laboratory, |
RCV000082714 | SCV001741193 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000082714 | SCV001960026 | benign | not specified | no assertion criteria provided | clinical testing |