Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV000677545 | SCV000803058 | uncertain significance | Mucopolysaccharidosis type 6 | 2018-01-01 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV000677545 | SCV000895720 | uncertain significance | Mucopolysaccharidosis type 6 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000677545 | SCV001120252 | likely benign | Mucopolysaccharidosis type 6 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000677545 | SCV001314950 | likely benign | Mucopolysaccharidosis type 6 | 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Gene |
RCV000675209 | SCV001792291 | likely benign | not provided | 2020-02-24 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 17458871, 21228398) |
Mayo Clinic Laboratories, |
RCV000675209 | SCV000800851 | uncertain significance | not provided | 2017-09-20 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000677545 | SCV001458081 | likely benign | Mucopolysaccharidosis type 6 | 2019-12-30 | no assertion criteria provided | clinical testing |