ClinVar Miner

Submissions for variant NM_152722.5(HEPACAM):c.*457_*460del

gnomAD frequency: 0.13016  dbSNP: rs72505890
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000274120 SCV000368515 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004693001 SCV005191532 uncertain significance not provided criteria provided, single submitter not provided

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