ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.341-25_370dup (rs1553619923)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465422 SCV000553424 uncertain significance Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2019-11-18 criteria provided, single submitter clinical testing This sequence change is a 55bp tandem duplication which includes portions of intron 1 and exon 2 and spans the splice site. The frequency data for this variant in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. It has not been reported in the literature in individuals with a VHL-related disease. Because this duplication includes the existing splice site, the impact on the resulting mRNA and protein is uncertain. Therefore, it has been classified as a Variant of Uncertain Significance.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000767258 SCV000897807 likely pathogenic Von Hippel-Lindau syndrome 2018-08-01 criteria provided, single submitter clinical testing

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