ClinVar Miner

Submissions for variant NC_000008.10:g.(?_94767143)_(94935901_?)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 RCV003113768 SCV003796852 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-03-20 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 TMEM67-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the TMEM67 gene has been identified. Loss-of-function variants in TMEM67 are known to be pathogenic (PMID: 20232449, 23559409). 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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