Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001043641 | SCV001207397 | benign | Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 | 2023-08-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001772237 | SCV001994417 | uncertain significance | not provided | 2019-08-22 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002553099 | SCV003752336 | uncertain significance | Inborn genetic diseases | 2022-09-06 | criteria provided, single submitter | clinical testing | The c.2861G>A (p.C954Y) alteration is located in exon 13 (coding exon 12) of the GRIN2B gene. This alteration results from a G to A substitution at nucleotide position 2861, causing the cysteine (C) at amino acid position 954 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |