ClinVar Miner

Submissions for variant NC_000016.9:g.(?_68772190)_(68849672_?)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 RCV001385834 SCV001585818 pathogenic Hereditary diffuse gastric adenocarcinoma 2020-06-23 criteria provided, single submitter clinical testing Loss-of-function variants in CDH1 are known to be pathogenic (PMID: 15235021, 20373070). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with CDH1-related conditions. This variant is an out-of-frame deletion of the genomic region encompassing exon(s) 2-10 of the CDH1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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