Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000466137 | SCV000560144 | benign | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV004999502 | SCV001145204 | benign | not specified | 2023-10-20 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001081426 | SCV001316659 | benign | Autosomal recessive juvenile Parkinson disease 2 | 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Gene |
RCV000466137 | SCV001822321 | likely benign | not provided | 2020-07-21 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000466137 | SCV005226259 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV003902698 | SCV004720394 | benign | PRKN-related disorder | 2020-01-06 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |