Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000280447 | SCV000441569 | benign | Hermansky-Pudlak syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000325027 | SCV000484040 | benign | Deficiency of ferroxidase | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000455632 | SCV000539311 | benign | not specified | 2016-04-25 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency, outside ROI |
Invitae | RCV001522009 | SCV001731461 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001522009 | SCV001887064 | benign | not provided | 2019-10-02 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000280447 | SCV001456560 | benign | Hermansky-Pudlak syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |