Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780282 | SCV000917424 | uncertain significance | not specified | 2018-12-10 | criteria provided, single submitter | clinical testing | Variant summary: GALT c.779_790del12 (p.His260_Arg263del) results in an in-frame deletion that is predicted to remove four amino acids from the encoded protein. The variant was absent in 245702 control chromosomes. To our knowledge, no occurrence of c.779_790del12 in individuals affected with Galactosemia and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic. |
Natera, |
RCV001826499 | SCV002085234 | uncertain significance | Galactosemia | 2021-07-29 | no assertion criteria provided | clinical testing |