Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000675884 | SCV000227053 | uncertain significance | not provided | 2014-06-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001081199 | SCV001018443 | benign | Mucopolysaccharidosis, MPS-II | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001081199 | SCV002014461 | likely benign | Mucopolysaccharidosis, MPS-II | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965264 | SCV004778452 | likely benign | IDS-related disorder | 2023-02-27 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Mayo Clinic Laboratories, |
RCV000675884 | SCV000801610 | likely benign | not provided | 2017-06-15 | no assertion criteria provided | clinical testing | |
Natera, |
RCV001835703 | SCV002084499 | likely benign | Mucopolysaccharidosis, MPS-III-A | 2019-10-28 | no assertion criteria provided | clinical testing |