Submissions for variant NM_020297.4(ABCC9):c.1416T>C (p.Phe472=)

gnomAD frequency: 0.00003  dbSNP: rs777308898

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000640342	SCV000761931	likely benign	Dilated cardiomyopathy 1O	2024-10-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002388069	SCV002697286	likely benign	Cardiovascular phenotype	2020-02-27	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.
Clinical Genetics, Academic Medical Center	RCV001700432	SCV001920452	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702536	SCV001928278	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001702536	SCV001951773	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001702536	SCV001970220	likely benign	not provided		no assertion criteria provided	clinical testing