Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000423489 | SCV000520677 | benign | not specified | 2016-04-13 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001104040 | SCV001122564 | benign | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001104040 | SCV001260867 | benign | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | 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. |
Mayo Clinic Laboratories, |
RCV000675426 | SCV000801106 | likely benign | not provided | 2017-04-24 | no assertion criteria provided | clinical testing |