Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000730808 | SCV000858572 | uncertain significance | not provided | 2017-12-22 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000825225 | SCV000966507 | likely benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Thr1066Ala in exon 23 of FAM65B: This variant is not expected to have clinical significance because it has been identified in 0.65% (14/2154) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs373913240). |
Invitae | RCV000730808 | SCV001027151 | likely benign | not provided | 2023-05-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003928231 | SCV004739960 | likely benign | RIPOR2-related condition | 2019-09-24 | 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). |