Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000218086 | SCV000270241 | likely benign | not specified | 2015-07-01 | criteria provided, single submitter | clinical testing | p.Ala156Thr in exon 5 of GPR98: This variant is not expected to have clinical si gnificance because the alanine (Ala) residue at position 156 is not conserved th rough species, with >10 mammals having a threonine (Thr) at this position. In ad dition, it has been identified in 0.2% (17/7556) of South Asian chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs2 01180985). |
Invitae | RCV001231185 | SCV001403696 | likely benign | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Al Jalila Children's Genomics Center, |
RCV000218086 | SCV001984590 | likely benign | not specified | 2020-02-25 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001231185 | SCV003820465 | uncertain significance | not provided | 2019-05-09 | criteria provided, single submitter | clinical testing |