ClinVar Miner

Submissions for variant NC_000016.9:g.(?_7383003)_(7760747_?)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 RCV003113672 SCV003796416 uncertain significance Idiopathic generalized epilepsy 2022-09-02 criteria provided, single submitter clinical testing A copy number gain of the genomic region encompassing the full coding sequence of the RBFOX1 gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. A similar copy number variant has been observed in individual(s) with clinical features of RBFOX1-related conditions (PMID: 31602316). 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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