Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003891866 | SCV000305709 | benign | PKD1-related condition | 2019-06-19 | criteria provided, single submitter | 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). |
ARUP Laboratories, |
RCV000247704 | SCV000604751 | benign | not specified | 2016-11-02 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000247704 | SCV001879425 | benign | not specified | 2020-09-18 | criteria provided, single submitter | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV001795415 | SCV002036271 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001795415 | SCV002038192 | likely benign | not provided | no assertion criteria provided | clinical testing |