ClinVar Miner

Submissions for variant NC_000005.9:g.(?_127622400)_(127645101_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001322791 SCV001513678 uncertain significance Congenital contractural arachnodactyly 2021-09-16 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 41-55 of the FBN2 gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be in-frame, and likely preserves the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with clinical features of congenital contractural arachnodactyly (Invitae). 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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