Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000196556 | SCV000252342 | benign | not specified | 2011-07-05 | 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. |
Illumina Laboratory Services, |
RCV000353708 | SCV000478290 | likely benign | Leigh syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000353708 | SCV000627069 | benign | Leigh syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590784 | SCV000698179 | benign | not provided | 2016-04-05 | criteria provided, single submitter | clinical testing | Variant summary: The c.543C>T in SURF1 gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at frequency of 2%, primarily in individuals of East Asian descent (~26%), including numerous homozygous occurrences. The observed frequency exceeds the maximum expected allele frequency for a pathogenic SURF1 variant, suggesting that it is a common polymorphism. In addition, the variant has been reported as Benign by reputable database/clinical laboratory. Taken together, this variant has been classified as Benign. |
Mayo Clinic Laboratories, |
RCV000590784 | SCV000802534 | benign | not provided | 2016-02-29 | no assertion criteria provided | clinical testing |