Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220806 | SCV000269154 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | 1785-13C>T in intron 14 of HPS5: This variant is not expected to have clinical s ignificance because it has been identified in 6.9% (302/4398) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs73430857). |
Prevention |
RCV000220806 | SCV000316730 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000268416 | SCV000369620 | likely benign | Hermansky-Pudlak syndrome 5 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |