ClinVar Miner

Submissions for variant NM_000128.3(F11):c.67C>T (p.Gln23Ter) (rs768409400)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169536 SCV000221016 likely pathogenic Hereditary factor XI deficiency disease 2015-01-09 criteria provided, single submitter literature only
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727045 SCV000705125 pathogenic not provided 2016-12-29 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000727045 SCV001250477 pathogenic not provided 2018-08-01 criteria provided, single submitter clinical testing

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