Submissions for variant NM_001114753.3(ENG):c.1686+6T>G

gnomAD frequency: 0.00019  dbSNP: rs369766351

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001030827	SCV000546124	likely benign	Hereditary hemorrhagic telangiectasia	2024-01-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000827113	SCV000968735	likely benign	not provided	2018-05-08	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen	RCV000827113	SCV004700833	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ENG: BP4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000462533	SCV000734643	likely benign	Telangiectasia, hereditary hemorrhagic, type 1		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579783	SCV001808498	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000827113	SCV001920277	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000827113	SCV001976221	likely benign	not provided		no assertion criteria provided	clinical testing
John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine	RCV002285158	SCV002575030	benign	Pulmonary arterial hypertension	2022-09-26	no assertion criteria provided	clinical testing