Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000234245 | SCV000285673 | benign | Diamond-Blackfan anemia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000996932 | SCV001151933 | benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | RPS19: BS1, BS2 |
Broad Center for Mendelian Genomics, |
RCV001258318 | SCV001435286 | benign | Diamond-Blackfan anemia 1 | criteria provided, single submitter | research | The heterozygous c.356+18G>C variant in RPS19 has been identified in an individual with Diamond-Blackfan anaemia (PMID: 10590074), but has also been identified in >2% of European (Finnish) chromosomes and 14 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal recessive Diamond-Blackfan anaemia. | |
Gene |
RCV000996932 | SCV001941516 | benign | not provided | 2018-12-19 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 10590074, 27535533) |
Ambry Genetics | RCV000234245 | SCV002618902 | benign | Diamond-Blackfan anemia | 2015-05-20 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Fulgent Genetics, |
RCV001258318 | SCV002800072 | benign | Diamond-Blackfan anemia 1 | 2021-12-14 | criteria provided, single submitter | clinical testing |