Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000970421 | SCV000715010 | benign | not provided | 2019-11-27 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000600202 | SCV000966301 | benign | not specified | 2018-09-12 | criteria provided, single submitter | clinical testing | The p.Arg406Trp variant in GPSM2 is classified as benign because it has been ide ntified in 2.0% (387/18868) of East Asian chromosomes, including 3 homozygotes, by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org). A CMG/AMP Criteria applied: BA1. |
Invitae | RCV000970421 | SCV001117998 | benign | not provided | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001101472 | SCV001258082 | uncertain significance | Chudley-McCullough syndrome | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |