ClinVar Miner

Submissions for variant NC_000016.9:g.(?_7383003)_(7568411_?)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 RCV001946346 SCV002214067 uncertain significance Idiopathic generalized epilepsy 2022-08-22 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with RBFOX1-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 1-2 of the RBFOX1 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RBFOX1 cause disease.

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