Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
American College of Medical Genetics and Genomics |
RCV001249604 | SCV001423586 | other | Fragile X syndrome | 2013-03-19 | practice guideline | curation | Alleles in this range can be considered normal in the sense that such alleles are not associated with fragile X syndrome and have not been observed to expand to a full mutation in one generation. Minor increases and decreases in repeat number can occur when alleles of this size are passed on, but there is no measurable risk of a child with fragile X syndrome in the next generation. Alleles of this size may be associated with fragile X syndrome in future generations or in distant relatives. Alleles in this range can be referred to as premutations if they are confirmed by family studies to be traceable to a known full mutation or unambiguous premutation. |