Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586063 | SCV000695703 | uncertain significance | not provided | 2017-03-16 | criteria provided, single submitter | clinical testing | Variant summary: The GALT c.788_790dupGGC (p.Arg263dup) variant involves the insertion of three nucleotides resulting in an in-frame insertion of Arginine. One in silico tool predicts a benign outcome for this variant. This variant is absent in 121334 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available. |
Natera, |
RCV001829615 | SCV002085238 | uncertain significance | Galactosemia | 2020-09-25 | no assertion criteria provided | clinical testing |