Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000224873 | SCV000280804 | likely benign | not provided | 2016-04-25 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Invitae | RCV001078823 | SCV001021913 | likely benign | Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 2023-10-22 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001078823 | SCV002811811 | likely benign | Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 2022-04-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003947734 | SCV004765066 | likely benign | GLI2-related condition | 2019-10-02 | 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). |