Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000651716 | SCV000773570 | benign | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001537188 | SCV001754039 | benign | not provided | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003980270 | SCV004789208 | benign | HNRNPA2B1-related disorder | 2019-07-19 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |