Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000657136 | SCV000226203 | uncertain significance | not provided | 2017-03-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000657136 | SCV000618139 | uncertain significance | not provided | 2021-05-04 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV000540247 | SCV000626549 | likely benign | Glycogen storage disease, type II | 2024-01-19 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000540247 | SCV000883929 | uncertain significance | Glycogen storage disease, type II | 2020-12-11 | criteria provided, single submitter | clinical testing | The GAA c.2156C>A; p.Ala719Glu variant (rs146762316), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 194458). This variant is found in the non-Finnish European population with an overall allele frequency of 0.03% (36/110930 alleles) in the Genome Aggregation Database. The alanine at codon 719 is weakly conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.273). However, due to limited information, the clinical significance of the p.Ala719Glu variant is uncertain at this time. |
Genome- |
RCV000540247 | SCV001810178 | uncertain significance | Glycogen storage disease, type II | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000657136 | SCV003828512 | uncertain significance | not provided | 2022-12-06 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000540247 | SCV004040671 | uncertain significance | Glycogen storage disease, type II | 2023-02-16 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000540247 | SCV001459751 | uncertain significance | Glycogen storage disease, type II | 2020-09-16 | no assertion criteria provided | clinical testing |