ClinVar Miner

Submissions for variant NM_003073.4(SMARCB1):c.-207-?_*338dup1703

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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 RCV000229963 SCV000287847 uncertain significance Rhabdoid tumor predisposition syndrome 1; Schwannomatosis 2016-07-20 criteria provided, single submitter clinical testing A gross duplication of the genomic region encompassing the full coding sequence of the SMARCB1 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. Duplication of the entire SMARCB1 gene has not been reported in the literature. The impact of this duplication on SMARCB1 protein function and related disease is unknown. Therefore, this variant has been classified as a Variant of Uncertain Significance.

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