Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000398754 | SCV000404388 | uncertain significance | Retinitis pigmentosa | 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. |
ARUP Laboratories, |
RCV000507639 | SCV000602904 | likely benign | not provided | 2017-05-29 | criteria provided, single submitter | clinical testing | The CA4 c.258C>T;p.Asn86Asn variant has not been described in the medical literature or in gene-specific databases. The variant is listed in the ClinVar database (Variation ID: 324229) and the dbSNP variant database (rs185476073) with an allele frequency of 0.0231 percent in the Exome Variant Server and 0.01325 percent in the Genome Aggregation Database. The nucleotide at this position is not conserved across species (SpliceSiteFinder-like, MaxEntScan, NNSplice, GeneSplicer, Human Splicing Finder) do not predict a significant change to splicing. Considering available information, this variant is classified as likely benign. |
Invitae | RCV000507639 | SCV001704863 | likely benign | not provided | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000507639 | SCV004145794 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | CA4: BP4, BP7 |
Clinical Genetics, |
RCV001795944 | SCV002034522 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000507639 | SCV002038474 | likely benign | not provided | no assertion criteria provided | clinical testing |