ClinVar Miner

Submissions for variant NM_152722.5(HEPACAM):c.*363dup

gnomAD frequency: 0.00356  dbSNP: rs577667880
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000379637 SCV000368523 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 2016-06-14 criteria provided, single submitter clinical testing

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