Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000424141 | SCV000511583 | likely pathogenic | not provided | 2016-09-08 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001336162 | SCV001529480 | pathogenic | Mitochondrial complex I deficiency, nuclear type 1 | 2018-04-14 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV000424141 | SCV002558079 | uncertain significance | not provided | 2022-07-28 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002524733 | SCV003725864 | likely pathogenic | Inborn genetic diseases | 2021-05-14 | criteria provided, single submitter | clinical testing | The c.188dupA (p.Y63*) alteration, located in exon 2 (coding exon 2) of the NDUFAF3 gene, consists of a duplication of A at position 188, causing a translational frameshift with a predicted alternate stop codon after amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on the available evidence, this alteration is classified as likely pathogenic. |
Baylor Genetics | RCV003152601 | SCV003841191 | likely pathogenic | Mitochondrial complex 1 deficiency, nuclear type 18 | criteria provided, single submitter | clinical testing |