ClinVar Miner

Submissions for variant NC_000005.9:g.(?_112043009)_(112073585_?)dup

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808623 SCV000948737 uncertain significance Familial adenomatous polyposis 1 2018-12-28 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the APC gene. It does not change the encoded amino acid sequence of the APC protein. This variant has not been reported in the literature in individuals with APC-related conditions. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of this non-coding change is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV001856253 SCV002273061 uncertain significance Familial adenomatous polyposis 1 2022-09-14 criteria provided, single submitter clinical testing This variant is a copy number gain that occurs in a non-coding region of the APC gene. It does not change the encoded amino acid sequence of the APC protein. This variant has not been reported in the literature in individuals affected with APC-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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