ClinVar Miner

Submissions for variant NC_000002.11:g.(?_47969473)_48033914del

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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 RCV001385445 SCV001585283 pathogenic Hereditary nonpolyposis colorectal neoplasms 2020-03-10 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 1-9 (c.-40900_4002-4del) of the MSH6 gene, which includes the initiator codon. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with MSH6-related conditions. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). For these reasons, this variant has been classified as Pathogenic.

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