Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001800304 | SCV002046407 | pathogenic | not provided | 2020-11-13 | criteria provided, single submitter | clinical testing | The variant has been reported as an unstable beta globin variant. Individuals heterozygous for this variant have been reported to present with hemolytic anemia (PMID 952960 (1976), 3240605 (1998), 27686852 (2016)). In addition, this variant was reported as a de novo mutation in two individuals with hemolytic anemia (PMID 24904938 (2014), 8330973 (1993)). Therefore, this variant is classified as pathogenic. |
OMIM | RCV000016638 | SCV000036907 | other | HEMOGLOBIN VOLGA | 2017-12-12 | no assertion criteria provided | literature only | |
OMIM | RCV000016639 | SCV000036908 | other | HEMOGLOBIN DRENTHE | 2017-12-12 | no assertion criteria provided | literature only |