Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000961862 | SCV001108918 | likely benign | not provided | 2018-06-18 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000961862 | SCV005223567 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV003926169 | SCV004740040 | benign | PXDNL-related disorder | 2019-09-17 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |