Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000078391 | SCV000110237 | benign | not specified | 2015-12-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000078391 | SCV000302976 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000289071 | SCV000451768 | benign | Mucopolysaccharidosis type 1 | 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. |
ARUP Laboratories, |
RCV000590281 | SCV000604008 | benign | not provided | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590281 | SCV000695972 | benign | not provided | 2016-01-15 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000289071 | SCV001730203 | benign | Mucopolysaccharidosis type 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000590281 | SCV001753000 | benign | not provided | 2018-07-05 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 31473686, 26256109, 21462124, 19396826, 9536518, 21639919, 24053568, 24875751) |
Genome- |
RCV001543713 | SCV001762537 | benign | Hurler syndrome | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001543714 | SCV001762538 | benign | Mucopolysaccharidosis, MPS-I-H/S | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001543715 | SCV001762539 | benign | Mucopolysaccharidosis, MPS-I-S | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000590281 | SCV005306380 | benign | not provided | criteria provided, single submitter | not provided | ||
Mayo Clinic Laboratories, |
RCV000590281 | SCV000801295 | benign | not provided | 2016-02-03 | no assertion criteria provided | clinical testing | |
Diagnostic Laboratory, |
RCV000078391 | SCV001740580 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000078391 | SCV001920213 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000078391 | SCV001968446 | benign | not specified | no assertion criteria provided | clinical testing | ||
Natera, |
RCV000289071 | SCV002083096 | benign | Mucopolysaccharidosis type 1 | 2017-05-11 | no assertion criteria provided | clinical testing |