Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000246437 | SCV000305408 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000246437 | SCV000517497 | benign | not specified | 2015-12-02 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000587549 | SCV000697533 | benign | not provided | 2016-08-08 | criteria provided, single submitter | clinical testing | Variant summary: The AGL c.959-18G>A variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. This variant was found in 84126/115018 control chromosomes (30465 homozygotes) at a frequency of 0.731416, which is approximately 320 times the estimated maximal expected allele frequency of a pathogenic AGL variant (0.0022822), suggesting this variant is likely a benign polymorphism. 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. Taken together, this variant is classified as benign. |
Invitae | RCV001511878 | SCV001719196 | benign | Glycogen storage disease type III | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001511878 | SCV002055052 | benign | Glycogen storage disease type III | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001511878 | SCV002813157 | benign | Glycogen storage disease type III | 2021-07-29 | criteria provided, single submitter | clinical testing |