Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins NTD LLC |
RCV000724340 | SCV000231290 | uncertain significance | not provided | 2018-08-01 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000179095 | SCV000711051 | likely benign | not specified | 2017-04-25 | criteria provided, single submitter | clinical testing | p.Leu3521Leu in exon 51 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 has been identified in 0.2% (57/24008) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.b roadinstitute.org; dbSNP rs200946170). |
Gene |
RCV000724340 | SCV000968688 | likely benign | not provided | 2020-09-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000724340 | SCV001032236 | benign | not provided | 2021-09-24 | criteria provided, single submitter | clinical testing |