ClinVar Miner

Submissions for variant NC_000022.11:g.(?_23825215)_(23825425_?)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 RCV001032246 SCV001195553 pathogenic not provided 2019-07-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SMARCB1 are known to be pathogenic (PMID: 10521299, 21208904). A similar deletion of exon 7 has been observed in an individual affected with rhabdoid tumor (PMID: 21108436). This variant is an out-of-frame deletion of the genomic region encompassing exon 7 of the SMARCB1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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