Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000309035 | SCV000462637 | likely benign | Diamond-Blackfan anemia 9 | 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Baylor Genetics | RCV000309035 | SCV001481486 | uncertain significance | Diamond-Blackfan anemia 9 | 2019-01-20 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV001493828 | SCV001698468 | likely benign | Diamond-Blackfan anemia | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001493828 | SCV002668557 | likely benign | Diamond-Blackfan anemia | 2017-07-06 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Ambry Genetics | RCV002523566 | SCV003680953 | uncertain significance | Inborn genetic diseases | 2021-10-21 | criteria provided, single submitter | clinical testing | The c.71A>G (p.K24R) alteration is located in exon 2 (coding exon 1) of the RPS10-NUDT3 gene. This alteration results from a A to G substitution at nucleotide position 71, causing the lysine (K) at amino acid position 24 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |