ClinVar Miner

Submissions for variant NC_000001.11:g.(?_236795684)_(236897664_?)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 RCV000642177 SCV000763831 pathogenic Methylcobalamin deficiency type cblG 2020-05-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MTR are known to be pathogenic (PMID: 9683607, 12068375). This variant has not been reported in the literature in individuals with MTR-related disease. A gross deletion of the genomic region encompassing the full coding sequence of the MTR gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes.

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