ClinVar Miner

Submissions for variant NM_152722.4(HEPACAM):c.-67G>T

gnomAD frequency: 0.00379  dbSNP: rs28372748
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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 RCV000385985 SCV000368560 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001582935 SCV001812941 likely benign not provided 2018-09-05 criteria provided, single submitter clinical testing

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