ClinVar Miner

Submissions for variant NC_000019.10:g.(?_11018947)_(11030903_?)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 RCV000708275 SCV000837385 pathogenic Rhabdoid tumor predisposition syndrome 2 2019-11-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SMARCA4 are known to be pathogenic (PMID: 24658001, 24658002). This variant has not been reported in the literature in individuals with SMARCA4-related conditions. This variant is an out-of-frame deletion of the genomic region encompassing exons 17-25 of the SMARCA4 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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