Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000456583 | SCV000556880 | likely benign | not provided | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000456583 | SCV001982627 | benign | not provided | 2021-10-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003907751 | SCV004722070 | likely benign | A2ML1-related condition | 2022-02-21 | 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). |
Department of Molecular and Human Genetics, |
RCV000201258 | SCV000255640 | uncertain significance | Nonsyndromic otitis media | 2014-05-28 | no assertion criteria provided | research |