Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725976 | SCV000340938 | uncertain significance | not provided | 2016-03-28 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000306219 | SCV000594985 | likely benign | not specified | 2018-01-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725976 | SCV001825082 | likely benign | not provided | 2019-05-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855184 | SCV002237052 | likely benign | Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003957480 | SCV004770009 | likely benign | GLI2-related condition | 2019-09-13 | 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). |