ClinVar Miner

Submissions for variant NM_000130.5(F5):c.2241AGA[2] (p.Glu750del)

dbSNP: rs575766548
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000305414 SCV000351005 uncertain significance Thrombophilia due to activated protein C resistance 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000305414 SCV000351006 uncertain significance Thrombophilia due to activated protein C resistance 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000342069 SCV000351007 uncertain significance Factor V deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000398267 SCV000351008 uncertain significance Thrombophilia due to thrombin defect 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000307080 SCV000351009 uncertain significance Budd-Chiari syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV003761905 SCV001120383 benign Congenital factor V deficiency 2024-01-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV000342069 SCV001456808 benign Factor V deficiency 2020-09-16 no assertion criteria provided clinical testing

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