Submissions for variant NM_006073.4(TRDN):c.1713A>C (p.Glu571Asp)

gnomAD frequency: 0.00133  dbSNP: rs201115952

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV002525666	SCV000559458	likely benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001508199	SCV000719463	likely benign	not provided	2020-09-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620981	SCV000737523	likely benign	Cardiovascular phenotype	2018-09-06	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mayo Clinic Laboratories, Mayo Clinic	RCV001508199	SCV001714188	uncertain significance	not provided	2020-02-04	criteria provided, single submitter	clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	RCV003225729	SCV003807108	uncertain significance	Catecholaminergic polymorphic ventricular tachycardia 5	2022-06-06	criteria provided, single submitter	clinical testing	ACMG classification criteria: BP4 supporting