Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150817 | SCV000198352 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | His842His in exon 14 of HPS3: 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 18.9% (1627/8596) of European American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs3732557). |
Prevention |
RCV000150817 | SCV000314902 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000379483 | SCV000441565 | benign | Hermansky-Pudlak syndrome 3 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Invitae | RCV001515321 | SCV001723372 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000379483 | SCV001762756 | benign | Hermansky-Pudlak syndrome 3 | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001515321 | SCV001882516 | benign | not provided | 2018-07-05 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001273477 | SCV001456558 | benign | Hermansky-Pudlak syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |