Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522352 | SCV000621768 | pathogenic | not provided | 2017-10-18 | criteria provided, single submitter | clinical testing | The c.4494delC variant in the SCN2A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This deletion causes a frameshift starting with codon Tyrosine 1498 and changes this amino acid to a premature Stop codon, denoted p.Tyr1498Ter. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. |
Genome |
RCV001265400 | SCV001443526 | pathogenic | Complex neurodevelopmental disorder | 2018-02-02 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-02-02 and interpreted as Pathogenic. Variant was initially reported on 2017-10-23 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar. |