Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Personalized Diabetes Medicine Program, |
RCV000445405 | SCV000537031 | uncertain significance | Monogenic diabetes | 2017-03-31 | criteria provided, single submitter | research | ACMG Criteria:PP3, BP4 |
Fulgent Genetics, |
RCV000764620 | SCV000895728 | uncertain significance | Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000874074 | SCV001016199 | likely benign | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003932697 | SCV004750173 | likely benign | RFX6-related condition | 2022-02-02 | 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). |