ClinVar Miner

Submissions for variant NM_001430.5(EPAS1):c.*539_*540del (rs75932330)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000353138 SCV000430759 benign Familial erythrocytosis 2016-06-14 criteria provided, single submitter clinical testing

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