Submissions for variant NM_014476.6(PDLIM3):c.696C>T (p.Asp232=)

gnomAD frequency: 0.00013  dbSNP: rs148256486

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000183689	SCV000236158	benign	not specified	2014-06-24	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000229952	SCV000289985	likely benign	Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy	2025-01-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000183689	SCV002663930	likely benign	not specified	2022-06-09	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000183689	SCV005883150	benign	not specified	2024-12-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003947548	SCV004764633	likely benign	PDLIM3-related disorder	2019-02-22	no assertion criteria provided	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).