Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV000767894 | SCV000898524 | uncertain significance | Hermansky-Pudlak syndrome 2 | 2021-03-30 | criteria provided, single submitter | clinical testing | AP3B1 NM_003664 exon 24 p.Leu964Leu (c.2890T>C): This variant has not been reported in the literature but is present in 4/17240 East Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs750377910). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Labcorp Genetics |
RCV000767894 | SCV003450813 | likely benign | Hermansky-Pudlak syndrome 2 | 2023-12-07 | criteria provided, single submitter | clinical testing |