Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586397 | SCV000695686 | uncertain significance | not provided | 2016-02-19 | criteria provided, single submitter | clinical testing | Variant summary: The GALT c.268G>C variant affects a non-conserved nucleotide, resulting in amino acid change from Asp to His. 2/4 in-silico tools predict this variant to be benign (SNPs&GO not captured due to low reliability index). This variant is found in 2/121412 control chromosomes at a frequency of 0.0000165, which does not significantly exceed maximal expected frequency of a pathogenic allele (0.0028868). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical 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 was classified as a variant of uncertain significance (VUS) until additional information becomes available. |
Natera, |
RCV001834833 | SCV002085190 | uncertain significance | Galactosemia | 2017-05-09 | no assertion criteria provided | clinical testing |