ClinVar Miner

Submissions for variant NC_000023.10:g.(?_132795752)_(132888209_?)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 RCV001381169 SCV001579442 pathogenic Wilms tumor 1 2016-07-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in GPC3 are known to be pathogenic (PMID: 10814714, 17603795). This variant is a gross deletion of the genomic region encompassing exons 3-6 of the GPC3 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product.

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