Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000559891 | SCV000626682 | likely benign | Glycogen storage disease type III | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001843528 | SCV002102642 | uncertain significance | not provided | 2022-03-03 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002525286 | SCV003548677 | uncertain significance | Inborn genetic diseases | 2021-07-14 | criteria provided, single submitter | clinical testing | The c.1895T>C (p.I632T) alteration is located in exon 14 (coding exon 13) of the AGL gene. This alteration results from a T to C substitution at nucleotide position 1895, causing the isoleucine (I) at amino acid position 632 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV000559891 | SCV002091518 | uncertain significance | Glycogen storage disease type III | 2019-10-28 | no assertion criteria provided | clinical testing |