Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000178673 | SCV000230798 | benign | not specified | 2014-12-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000890563 | SCV000532308 | benign | not provided | 2020-02-26 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000178673 | SCV000711050 | benign | not specified | 2017-09-28 | criteria provided, single submitter | clinical testing | p.Ile3376Val in Exon 48 of GPR98: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence and it has been identified in 0.6% 155/23890 o f African chromosomes, including 1 homozygous individual) by the Genome Aggregat ion Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs200528472). |
Invitae | RCV000890563 | SCV001034318 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002517743 | SCV003538731 | likely benign | Inborn genetic diseases | 2021-10-22 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Prevention |
RCV003917668 | SCV004730876 | likely benign | ADGRV1-related condition | 2020-06-09 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |