Submissions for variant NM_020774.4(MIB1):c.2337C>T (p.Leu779=)

gnomAD frequency: 0.00034  dbSNP: rs146430244

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001722607	SCV000716265	likely benign	not provided	2021-02-27	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625292	SCV000744734	likely benign	Left ventricular noncompaction 7	2015-09-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002456330	SCV002737678	likely benign	Inborn genetic diseases	2020-01-16	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.
Breakthrough Genomics, Breakthrough Genomics	RCV001722607	SCV005217171	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000614108	SCV001919504	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001722607	SCV001951489	likely benign	not provided		no assertion criteria provided	clinical testing