Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000926632 | SCV001072195 | likely benign | not provided | 2024-01-12 | criteria provided, single submitter | clinical testing | |
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation | RCV003224493 | SCV003920688 | uncertain significance | Bardet-Biedl syndrome | criteria provided, single submitter | research | ||
Prevention |
RCV003913132 | SCV004736656 | likely benign | IFT27-related disorder | 2020-10-05 | 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). |