Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000595994 | SCV000703767 | uncertain significance | not provided | 2016-12-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000595994 | SCV001087985 | likely benign | not provided | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003935602 | SCV004759572 | likely benign | HPS1-related disorder | 2024-02-29 | 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). |
Natera, |
RCV001835865 | SCV002094603 | likely benign | Hermansky-Pudlak syndrome | 2019-10-28 | no assertion criteria provided | clinical testing |