ClinVar Miner

Submissions for variant GRCh38/hg38 19p13.2(chr19:11102663-11107515)x1

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Robarts Research Institute, Western University RCV000660739 SCV000782969 pathogenic Hypercholesterolemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing

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