ClinVar Miner

Submissions for variant NM_019616.4(F7):c.64G>A (p.Val22Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004797561 SCV005418499 likely pathogenic Myocardial infarction, susceptibility to; Congenital factor VII deficiency criteria provided, single submitter clinical testing PM2_Supporting+PP3+PM3_Strong+PP4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV005002042 SCV005627716 likely pathogenic Congenital factor VII deficiency 2024-05-27 criteria provided, single submitter clinical testing

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