ClinVar Miner

Submissions for variant NM_019616.4(F7):c.364+1G>A

gnomAD frequency: 0.00006  dbSNP: rs1056071555
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852127 SCV000899735 likely pathogenic Factor VII deficiency 2019-02-01 criteria provided, single submitter research
Baylor Genetics RCV000852127 SCV001522607 likely pathogenic Factor VII deficiency 2020-05-06 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001561212 SCV001783767 likely pathogenic not provided 2023-12-11 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in an in-frame loss of the adjacent exon in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 9680360, 8652821, 25525159, 31273093, 31064749, 29318701, 25952977)
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV002245657 SCV002515848 pathogenic Congenital factor VII deficiency 2022-04-21 criteria provided, single submitter research ACMG codes: PVS1, PS3, PM2
Fulgent Genetics, Fulgent Genetics RCV002487577 SCV002779130 pathogenic Myocardial infarction, susceptibility to; Congenital factor VII deficiency 2024-01-16 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001561212 SCV004224395 pathogenic not provided 2022-04-01 criteria provided, single submitter clinical testing PM2, PS3, PS4_moderate, PVS1

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