ClinVar Miner

Submissions for variant NC_000011.9:g.(?_532631)_(532755_?)dup

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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 RCV000474493 SCV000563971 uncertain significance Costello syndrome 2016-08-31 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exon 5 of the HRAS gene. The 5' boundary is likely confined to intron 4. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with a HRAS-related disease. In summary, this is a novel duplication of exon 5 of the HRAS gene. The effect of this duplication on HRAS function can not be unequivocally established. Therefore, it has been classified as a Variant of Uncertain Significance

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