ClinVar Miner

Submissions for variant NM_001430.5(EPAS1):c.218-14_218-13insG

gnomAD frequency: 0.00118  dbSNP: rs781736017
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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 RCV000377026 SCV000430702 likely benign Familial erythrocytosis 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003422319 SCV004146036 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing EPAS1: BS2

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