Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000828262 | SCV000969946 | likely benign | not provided | 2018-03-20 | 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. |
Invitae | RCV001213699 | SCV001385345 | likely benign | Lafora disease | 2023-07-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002536106 | SCV003580016 | uncertain significance | Inborn genetic diseases | 2021-10-20 | criteria provided, single submitter | clinical testing | The c.977C>A (p.T326N) alteration is located in exon 1 (coding exon 1) of the NHLRC1 gene. This alteration results from a C to A substitution at nucleotide position 977, causing the threonine (T) at amino acid position 326 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |