Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000216729 | SCV000269150 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | Val633Val in exon 13 of HPS4: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 5.2% (230/4406) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs35993959). |
Prevention |
RCV000216729 | SCV000313936 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000295465 | SCV000437639 | likely benign | Hermansky-Pudlak syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000948129 | SCV001094324 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000948129 | SCV001850698 | benign | not provided | 2020-11-24 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000948129 | SCV005210234 | likely benign | not provided | criteria provided, single submitter | not provided |