Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411548 | SCV000487233 | likely pathogenic | Deficiency of alpha-mannosidase | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Génétique des Maladies du Développement, |
RCV001374658 | SCV001571427 | pathogenic | Intellectual disability | 2021-04-19 | criteria provided, single submitter | clinical testing | Deletion causing a premature stop codon. In trans with another pathogenic variant. Previously described likely pathogenic in CLinVar, absent from gnomAD |
Genome- |
RCV000411548 | SCV002014398 | pathogenic | Deficiency of alpha-mannosidase | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000411548 | SCV004191912 | likely pathogenic | Deficiency of alpha-mannosidase | 2022-11-27 | criteria provided, single submitter | clinical testing |