ClinVar Miner

Submissions for variant NM_152722.5(HEPACAM):c.442C>T (p.Pro148Ser)

dbSNP: rs1555055028
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV000499085 SCV000590821 likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 2A; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability no assertion criteria provided clinical testing

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