Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000601945 | SCV000731787 | likely benign | not specified | 2017-07-20 | criteria provided, single submitter | clinical testing | p.Ile280Leu in exon 7 of GPR98: This variant is not expected to have clinical si gnificance because the isoleucine (Ile) at position 280 is not conserved through species, with >10 mammals having a leucine (Leu) at this position. This varian t has also been identified in 2/33580 Latino chromosomes by the Genome Aggregati on Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs772896545). |