ClinVar Miner

Submissions for variant NC_000007.13:g.(?_102937907)_(103629803_?)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 RCV001951338 SCV002238511 pathogenic Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2022-07-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with autosomal recessive RELN-related conditions. Similar deletions have been reported in individual(s) with autosomal dominant developmental delay and intellectual disability (PMID: 17124408); however, the role of the variant in this condition is currently unclear. A gross deletion of the genomic region encompassing the full coding sequence of the RELN gene has been identified. Loss-of-function variants in RELN are known to be pathogenic (PMID: 10973257, 26046367, 28454995). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

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