ClinVar Miner

Submissions for variant NM_019616.4(F7):c.505+78G>A

gnomAD frequency: 0.00001  dbSNP: rs764741909
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002226073 SCV002504233 pathogenic not provided 2024-03-15 criteria provided, single submitter clinical testing Functional studies indicate that this variant creates a cryptic splice donor site and a frameshift, resulting in a null allele in a gene for which loss-of-function is a known mechanism of disease (PMID: 31273093); No data available from control populations to assess the frequency of this variant; This variant is associated with the following publications: (PMID: 31273093, 36229963, 35802509, 37761907)
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002243529 SCV002515624 likely pathogenic Congenital factor VII deficiency criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Skane University Hospital Lund RCV002226073 SCV005197851 pathogenic not provided 2023-08-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005002807 SCV005632517 likely pathogenic Myocardial infarction, susceptibility to; Congenital factor VII deficiency 2024-03-15 criteria provided, single submitter clinical testing

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