Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039603 | SCV000063292 | benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Ala2032Val in Exon 28 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 0.9% (27/2988) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs142013761). |
Eurofins Ntd Llc |
RCV000039603 | SCV000202822 | benign | not specified | 2014-04-25 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000514078 | SCV000610786 | likely benign | not provided | 2017-02-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000514078 | SCV000969513 | likely benign | not provided | 2020-12-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000514078 | SCV001103046 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000514078 | SCV001142937 | likely benign | not provided | 2018-09-14 | criteria provided, single submitter | clinical testing |