Submissions for variant NM_000505.3(F12):c.-57G>C

gnomAD frequency: 0.00297  dbSNP: rs41309132

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000317529	SCV000484123	likely benign	Factor XII deficiency disease	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000372080	SCV000484124	likely benign	Hereditary angioneurotic edema	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001528482	SCV002504214	likely benign	not provided	2020-01-08	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics	RCV002504199	SCV002811814	likely benign	Factor XII deficiency disease; Hereditary angioedema type 3	2021-07-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001528482	SCV004158119	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	F12: BS1, BS2
Mayo Clinic Laboratories, Mayo Clinic	RCV001528482	SCV004227160	uncertain significance	not provided	2022-07-29	criteria provided, single submitter	clinical testing	BS1, PS3
PreventionGenetics, part of Exact Sciences	RCV004555573	SCV004796581	likely benign	F12-related disorder	2022-08-03	criteria provided, single submitter	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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528482	SCV001740302	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001528482	SCV001954206	likely benign	not provided		no assertion criteria provided	clinical testing