Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Human Genetics and Genomic Medicine, |
RCV002292432 | SCV002584945 | uncertain significance | Frank-Ter Haar syndrome | 2022-10-17 | criteria provided, single submitter | clinical testing | The variant is reported in the dbSNP database (dbSNP151, rs1246166974). It is listed in gnomAD/Exomes (v2.1.1) with a frequency of 0.000795% (2/251454). The variant has not been previously described in ClinVar or in the literature. Bioinformatic prediction programs evaluate the variant inconsistently (SIFT: deleterious, PolyPhen2: possibly damaging, MutationTaster: benign). In summary, the variant is to be considered as "variant of unknown significance" (ACMG criteria). |