Submissions for variant NM_013266.4(CTNNA3):c.2172A>C (p.Pro724=)

gnomAD frequency: 0.00191  dbSNP: rs116662854

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000555603	SCV000654846	benign	Arrhythmogenic right ventricular dysplasia 13	2025-01-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001727760	SCV002008362	likely benign	not provided	2021-05-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001701084	SCV002726661	likely benign	not specified	2022-02-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
CeGaT Center for Human Genetics Tuebingen	RCV001727760	SCV004125490	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	CTNNA3: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001701084	SCV004241124	benign	not specified	2023-12-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001727760	SCV005228078	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV001701084	SCV001920898	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727760	SCV001970990	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004754470	SCV005351493	benign	CTNNA3-related disorder	2024-04-25	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).