Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002512778 | SCV003525462 | uncertain significance | not provided | 2022-08-27 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 16 of the HPS3 gene. It does not directly change the encoded amino acid sequence of the HPS3 protein. This variant is present in population databases (rs281865096, gnomAD 0.01%). This variant has been observed in individual(s) with Hermansky-Pudlak syndrome (PMID: 11590544). ClinVar contains an entry for this variant (Variation ID: 4614). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Baylor Genetics | RCV000004877 | SCV004199994 | likely pathogenic | Hermansky-Pudlak syndrome 3 | 2023-10-04 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000004877 | SCV000025053 | pathogenic | Hermansky-Pudlak syndrome 3 | 2001-11-01 | no assertion criteria provided | literature only | |
ISTH- |
RCV000004877 | SCV002515522 | uncertain significance | Hermansky-Pudlak syndrome 3 | no assertion criteria provided | research |