ClinVar Miner

Submissions for variant NC_000017.10:g.(?_411907)_(618097_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002271894 SCV002556091 likely pathogenic Pontoneocerebellar hypoplasia 2022-06-02 criteria provided, single submitter clinical testing Variant summary: The variant identified by MLPA or other technology involves the deletion of the whole VPS53 gene. A presumed nomenclature of c.(?_-148)_(*10461_?)del has been designated for the purposes of this classification. The variant was absent in 21694 control chromosomes. To our knowledge, no occurrence of c.(?_-148)_(*10461_?)del in individuals affected with Pontocerebellar Hypoplasia, Type 2E and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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