Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000985727 | SCV001134200 | uncertain significance | not provided | 2023-01-17 | criteria provided, single submitter | clinical testing | The HBA2 c.49A>G (p.Lys17Glu or Lys16Glu) variant, also known as Hb I, is reported as having normal function and stability. Individuals heterozygous for this variant have normal clinical presentations with Hb I being 15-28% of the total hemoglobin (PMID: 7803274 (1994), 6085353 (1984)). Based on the available information, we are unable to determine the clinical significance of this variant. |
ARUP Laboratories, |
RCV000985727 | SCV001157421 | likely benign | not provided | 2021-12-21 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000016905 | SCV000037176 | other | HEMOGLOBIN I | 2013-03-28 | no assertion criteria provided | literature only | |
OMIM | RCV000016906 | SCV000037177 | other | HEMOGLOBIN I (BURLINGTON) | 2013-03-28 | no assertion criteria provided | literature only | |
OMIM | RCV000016907 | SCV000037178 | other | HEMOGLOBIN I (PHILADELPHIA) | 2013-03-28 | no assertion criteria provided | literature only | |
OMIM | RCV000016908 | SCV000037179 | other | HEMOGLOBIN I (SKAMANIA) | 2013-03-28 | no assertion criteria provided | literature only | |
OMIM | RCV000016909 | SCV000037180 | other | HEMOGLOBIN I (TEXAS) | 2013-03-28 | no assertion criteria provided | literature only |