Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000553823 | SCV000627150 | likely benign | Mucopolysaccharidosis type 1 | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001329096 | SCV001520423 | uncertain significance | Mucopolysaccharidosis, MPS-I-S | 2020-12-03 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Mayo Clinic Laboratories, |
RCV001509227 | SCV001715829 | uncertain significance | not provided | 2021-07-16 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001509227 | SCV003810003 | uncertain significance | not provided | 2023-09-26 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000553823 | SCV004040879 | uncertain significance | Mucopolysaccharidosis type 1 | 2023-08-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003942737 | SCV004766377 | likely benign | IDUA-related condition | 2022-09-07 | 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). |
Natera, |
RCV000553823 | SCV001457278 | uncertain significance | Mucopolysaccharidosis type 1 | 2020-06-02 | no assertion criteria provided | clinical testing |