ClinVar Miner

Submissions for variant NC_000007.13:g.(?_103629558)_(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 RCV004583586 SCV005065970 pathogenic Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2022-10-14 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 RELN-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 1 of the RELN 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. Loss-of-function variants in RELN are known to be pathogenic (PMID: 10973257, 26046367, 28454995).

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