ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.*261_*263del

dbSNP: rs886046108
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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 RCV000390710 SCV000355505 uncertain significance Familial erythrocytosis 2016-06-14 criteria provided, single submitter clinical testing

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