ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.1921-7A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001270837 SCV001451605 uncertain significance Leigh syndrome 2019-07-18 criteria provided, single submitter clinical testing The LRPPRC c.1921-7A>G variant is a splice region variant. A literature search was performed for the gene and cDNA change. No publications were found based on this search. This variant is reported at a frequency of 0.000008 in the Total population of the Genome Aggregation Database, though this is based on only two alleles in a region of good sequence coverage so the variant is presumed to be rare. Based on the limited evidence, the c.1921-7A>G variant is classified as a variant of uncertain significance for Leigh syndrome.

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