Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001266444 | SCV001444619 | pathogenic | Inborn genetic diseases | 2021-09-30 | criteria provided, single submitter | clinical testing | The c.5796_5806del11 (p.C1932Wfs*12) alteration, located in coding exon 26 of the MED13L gene, consists of a deletion of 11 nucleotides from position 5796 to 5806, causing a translational frameshift with a predicted alternate stop codon after 12 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic. |
Gene |
RCV001575300 | SCV001802263 | pathogenic | not provided | 2020-10-08 | criteria provided, single submitter | clinical testing | Frameshift 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; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
Genome |
RCV001265255 | SCV001443371 | pathogenic | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 2018-09-28 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-09-28 and interpreted as Pathogenic. Variant was initially reported on 2017-12-06 by GTR ID of laboratory name 61756. The reporting laboratory might also submit to ClinVar. |