ClinVar Miner

Submissions for variant NM_000128.4(F11):c.783G>C (p.Glu261Asp)

gnomAD frequency: 0.00007  dbSNP: rs201079681
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671496 SCV000796477 uncertain significance Hereditary factor XI deficiency disease 2017-12-28 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852218 SCV000899923 uncertain significance Abnormal bleeding 2019-02-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV000671496 SCV002779381 uncertain significance Hereditary factor XI deficiency disease 2022-04-29 criteria provided, single submitter clinical testing

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