ClinVar Miner

Submissions for variant NM_019616.4(F7):c.739+5G>A

gnomAD frequency: 0.00001  dbSNP: rs746625213
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851894 SCV000899943 likely pathogenic Factor VII deficiency 2019-02-01 criteria provided, single submitter research

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