ClinVar Miner

Submissions for variant NC_000005.10:g.(?_80775684)_(80775768_?)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 RCV000823233 SCV000964084 pathogenic not provided 2022-09-24 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 16 of the MSH3 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in MSH3 are known to be pathogenic (PMID: 27476653). This variant has not been reported in the literature in individuals affected with MSH3-related conditions. For these reasons, this variant has been classified as Pathogenic.

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