ClinVar Miner

Submissions for variant NM_019616.4(F7):c.694T>C (p.Cys232Arg)

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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 Leipzig Medical Center RCV003322659 SCV004027633 uncertain significance Congenital factor VII deficiency 2023-06-30 criteria provided, single submitter clinical testing Criteria applied: PM1,PM2_SUP,PP3

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