ClinVar Miner

Submissions for variant NM_000504.4(F10):c.747+8T>C

gnomAD frequency: 0.00016  dbSNP: rs200618182
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000983129 SCV001131148 likely benign not provided 2018-12-27 criteria provided, single submitter clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002245816 SCV002515801 uncertain significance Hereditary factor X deficiency disease no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV003936233 SCV004752268 likely benign F10-related disorder 2019-03-05 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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