ClinVar Miner

Submissions for variant NC_000019.9:g.(?_54297303)_(54410149_?)dup

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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 RCV001296829 SCV001485803 uncertain significance Familial cold autoinflammatory syndrome 2 2020-10-21 criteria provided, single submitter clinical testing A gross duplication of the genomic region encompassing the full coding sequence of the NLRP12 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with NLRP12-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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