ClinVar Miner

Submissions for variant NM_019616.4(F7):c.857T>C (p.Leu286Pro)

dbSNP: rs2142232799
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV002074464 SCV002320732 likely pathogenic Congenital factor VII deficiency 2022-01-05 criteria provided, single submitter clinical testing

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