Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000245411 | SCV000302952 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV001082989 | SCV000407347 | benign | Mucopolysaccharidosis, MPS-III-A | 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. |
SIB Swiss Institute of Bioinformatics | RCV000245411 | SCV000803485 | benign | not specified | 2018-05-31 | criteria provided, single submitter | curation | This variant is interpreted as a Benign. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age. |
Invitae | RCV001082989 | SCV001116108 | benign | Mucopolysaccharidosis, MPS-III-A | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001082989 | SCV002045512 | benign | Mucopolysaccharidosis, MPS-III-A | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000676148 | SCV000801895 | benign | not provided | 2016-07-27 | no assertion criteria provided | clinical testing |