Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001811150 | SCV001474508 | likely benign | not provided | 2019-09-12 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001811150 | SCV004219896 | uncertain significance | not provided | 2023-06-18 | criteria provided, single submitter | clinical testing | The HBB c.8A>G (p.His3Arg) variant (also known as Hb Deer Lodge) has been reported to have normal stability with slightly increased oxygen affinity and decreased cooperativity (PMID: 393 (1975)). Individuals who are heterozygous for this variant have a normal clinical presentation (), and PMIDs: 3384712 (1988), 1052174 (1976)). Co-occurrence of this variant with Hb S present with simple sickle cell trait (PMID: 1052174 (1976)). Based on the available information, we are unable to determine the clinical significance of this variant. |
OMIM | RCV000016324 | SCV000036592 | other | HEMOGLOBIN DEER LODGE | 2017-12-12 | no assertion criteria provided | literature only |