ClinVar Miner

Submissions for variant NC_000003.11:g.(?_9506089)_(9506376_?)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 RCV001951360 SCV002240985 pathogenic not provided 2021-02-15 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 18 of the SETD5 gene. This deletion is out-of-frame, and is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Loss-of-function variants in SETD5 are known to be pathogenic (PMID: 24680889). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with intellectual disability syndrome (Invitae).

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