Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000117116 | SCV000168635 | benign | not specified | 2013-06-14 | 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. |
Prevention |
RCV000117116 | SCV000302737 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000261636 | SCV000410906 | benign | Deficiency of guanidinoacetate methyltransferase | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000368554 | SCV000483723 | likely benign | Mitochondrial complex I deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000276453 | SCV000483724 | likely benign | Leigh syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001521976 | SCV001731421 | benign | Cerebral creatine deficiency syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000117116 | SCV001774722 | benign | not specified | 2021-07-26 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000117116 | SCV000151277 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. | |
Mayo Clinic Laboratories, |
RCV000676878 | SCV000802692 | benign | not provided | 2016-02-24 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000261636 | SCV001454097 | benign | Deficiency of guanidinoacetate methyltransferase | 2020-09-16 | no assertion criteria provided | clinical testing |