Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150823 | SCV000198358 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | Ser186Ser in exon 7 of HPS4: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 4.3% (367/8600) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs13054747). |
Prevention |
RCV000150823 | SCV000313941 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000276415 | SCV000437670 | likely benign | Hermansky-Pudlak syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001517866 | SCV001726457 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001517866 | SCV001787157 | likely benign | not provided | 2021-10-22 | criteria provided, single submitter | clinical testing |