Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
MAGI'S LAB - |
RCV000721106 | SCV000747137 | uncertain significance | Vitelliform macular dystrophy 2 | 2018-05-07 | criteria provided, single submitter | clinical testing | The p.(Ser108Arg) variant in BEST1 has been reported in a single Italian patient affected by Best vitelliform macular dystrophy (BVMD). Application of ACMG guidelines: PM2, absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium; BP4, multiple lines of computational evidence suggest no impact or gene or gene product (conservation, evolutionary, splicing impact, etc.). The variation has been classified as variant of uncertain significance. |
Sharon lab, |
RCV000721106 | SCV001160923 | pathogenic | Vitelliform macular dystrophy 2 | 2019-06-23 | no assertion criteria provided | research |