ClinVar Miner

Submissions for variant NM_000131.4(F7):c.430+1G>A (rs1056071555)

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Total submissions: 3
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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 2019-12-06 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in an in-frame deletion of a critical region; This variant is associated with the following publications: (PMID: 31273093, 29318701, 25952977, 25525159, 8652821, 9680360)

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