Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000661946 | SCV000784274 | likely pathogenic | Hermansky-Pudlak syndrome 3 | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855395 | SCV002121468 | pathogenic | not provided | 2023-10-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu913Aspfs*14) in the HPS3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HPS3 are known to be pathogenic (PMID: 11590544). This variant is present in population databases (no rsID available, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with Hermansky–Pudlak syndrome type 3 (PMID: 31898847). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV000661946 | SCV002812732 | pathogenic | Hermansky-Pudlak syndrome 3 | 2022-02-16 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000661946 | SCV003829064 | likely pathogenic | Hermansky-Pudlak syndrome 3 | 2022-09-25 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000661946 | SCV004200000 | likely pathogenic | Hermansky-Pudlak syndrome 3 | 2023-09-21 | criteria provided, single submitter | clinical testing |