Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079066 | SCV000110935 | benign | not specified | 2012-12-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000079066 | SCV000304658 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000351167 | SCV000458181 | benign | Sandhoff disease | 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, |
RCV000590368 | SCV000697177 | benign | not provided | 2016-11-25 | criteria provided, single submitter | clinical testing | Variant summary: The HEXB c.772-4A>G variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a polymorphism outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 8848/121370 control chromosomes (502 homozygotes) at a frequency of 0.072901, which is approximately 49 times the estimated maximal expected allele frequency of a pathogenic HEXB variant (0.001479), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign. |
Invitae | RCV000351167 | SCV001723832 | benign | Sandhoff disease | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000351167 | SCV001762880 | benign | Sandhoff disease | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000590368 | SCV001855575 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000590368 | SCV000801319 | benign | not provided | 2015-10-23 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000351167 | SCV001457613 | benign | Sandhoff disease | 2020-09-16 | no assertion criteria provided | clinical testing |