ClinVar Miner

Submissions for variant NM_019616.4(F7):c.580G>C (p.Gly194Arg)

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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 RCV003494562 SCV004244363 likely pathogenic Congenital factor VII deficiency 2024-01-23 criteria provided, single submitter clinical testing Criteria applied: PM5_STR,PM2_SUP,PP3

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