Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000679998 | SCV000807436 | uncertain significance | Landau-Kleffner syndrome | 2017-09-01 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory de novo in a 6-year-old male with intellectual disability, regression, epilepsy, mixed tone, joint contractures, failure to thrive, structural brain abnormalities, mild dysmorphisms, microcephaly |
3billion | RCV000679998 | SCV003841622 | uncertain significance | Landau-Kleffner syndrome | 2023-02-23 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.45; 3Cnet: 0.98). Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline. |