Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000878108 | SCV001020959 | likely benign | Short-rib thoracic dysplasia 11 with or without polydactyly | 2024-01-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002462211 | SCV002757578 | uncertain significance | not provided | 2022-11-22 | criteria provided, single submitter | clinical testing | Identified in the heterozygous state in a fetus with anencephaly (Yin et al., 2020); Published functional studies suggest a damaging effect (decreased activation of the SHH pathway) (Yin et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32576942) |
Prevention |
RCV003948266 | SCV004767575 | likely benign | DYNC2I2-related disorder | 2020-08-04 | no assertion criteria provided | 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). |