Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000926289 | SCV001071849 | likely benign | Immunodeficiency 51 | 2023-07-17 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000926289 | SCV001296725 | uncertain significance | Immunodeficiency 51 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
| Ambry Genetics | RCV002542194 | SCV003559099 | uncertain significance | Inborn genetic diseases | 2022-03-28 | criteria provided, single submitter | clinical testing | The c.641C>T (p.A214V) alteration is located in exon 7 (coding exon 7) of the IL17RA gene. This alteration results from a C to T substitution at nucleotide position 641, causing the alanine (A) at amino acid position 214 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |