ClinVar Miner

Submissions for variant NC_000023.10:g.146993570GGC[(45_54)]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
American College of Medical Genetics and Genomics (ACMG) 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.

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