ClinVar Miner

Submissions for variant NC_000005.10:g.(?_128408654)_(128530713_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000633654 SCV000754908 uncertain significance Congenital contractural arachnodactyly 2019-05-11 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 3-8 of the FBN2 gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with FBN2-related disease. 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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