ClinVar Miner

Submissions for variant NM_019616.4(F7):c.1105G>A (p.Gly369Ser)

gnomAD frequency: 0.00001  dbSNP: rs190485816
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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 RCV001801311 SCV002047520 likely pathogenic Congenital factor VII deficiency 2021-07-14 criteria provided, single submitter clinical testing

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