ClinVar Miner

Submissions for variant NC_000016.9:g.(?_53674925)_(53734635_?)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 RCV004581609 SCV005062188 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-05-21 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 RPGRIP1L-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 2-19 of the RPGRIP1L 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 RPGRIP1L are known to be pathogenic (PMID: 17558409).

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