ClinVar Miner

Submissions for variant NC_000019.10:g.(?_10984121)_(11062282_?)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 RCV000461677 SCV000563901 pathogenic Rhabdoid tumor predisposition syndrome 2 2016-10-24 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the SMARCA4 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this particular variant has not been reported in the literature, truncating variants in SMARCA4 are known to be pathogenic (PMID: 24658001, 24658002). For these reasons, this variant has been classified as Pathogenic.

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