Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000592415 | SCV000709335 | uncertain significance | not provided | 2017-06-14 | criteria provided, single submitter | clinical testing | |
| Johns Hopkins Genomics, |
RCV000758238 | SCV000886876 | uncertain significance | Hermansky-Pudlak syndrome 1 | 2019-01-25 | criteria provided, single submitter | clinical testing | This HPS1 variant (rs115265574) has been identified in large population datasets and the minor allele frequency is neither low enough to consider the variant rare (>0.1%) nor high enough to consider it a population polymorphism (>1%) within the African subpopulation (gnomAD: 84/24958 alleles; 0.34%, no homozygotes). A single submitter in ClinVar classifies this variant as uncertain clinical significance (Variation ID: 502551). This variant has not been reported in the literature, to our knowledge. Bioinformatic analysis predicts that this synonymous variant would not affect normal exon 4 splicing, although this has not been confirmed experimentally to our knowledge. Due to insufficient evidence that this variant is deleterious, the clinical significance of c.198G>A is uncertain at this time. |
| Labcorp Genetics |
RCV000592415 | SCV001047014 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000758238 | SCV001265832 | uncertain significance | Hermansky-Pudlak syndrome 1 | 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Natera, |
RCV001275788 | SCV001461341 | likely benign | Hermansky-Pudlak syndrome | 2020-01-13 | no assertion criteria provided | clinical testing |