ClinVar Miner

Submissions for variant NM_000128.4(F11):c.965C>T (p.Thr322Ile)

gnomAD frequency: 0.00001  dbSNP: rs281875269
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447485 SCV004175560 likely pathogenic Hereditary factor XI deficiency disease 2020-12-18 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059040 SCV000090561 not provided not provided no assertion provided not provided

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