Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673197 | SCV000798373 | uncertain significance | Sandhoff disease | 2018-03-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001310506 | SCV001500338 | likely pathogenic | not provided | 2021-01-01 | criteria provided, single submitter | clinical testing | |
Foundation for Research in Genetics and Endocrinology, |
RCV000673197 | SCV004174818 | likely pathogenic | Sandhoff disease | 2023-12-08 | criteria provided, single submitter | clinical testing | A heterozygous 5’ splice site variant in intron 11 of the HEXB gene was detected. The observed variant has not been reported in the 1000 genomes and has a minor allele frequency of 0.0016% in the gnomAD database. The in-silico prediction of the variant is disease causing by MutationTaster2 and SpliceAI. The reference base is conserved across mammals. In summary, the variant meets our criteria to be classified as likely pathogenic. |