Submissions for variant NM_001105206.3(LAMA4):c.196-15G>C

gnomAD frequency: 0.00060  dbSNP: rs371906362

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037343	SCV000061000	uncertain significance	not specified	2012-03-13	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The 196-15G>C varia nt (LAMA4) has been identified in 4/7020 European American chromosomes from a br oad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.e du/EVS). This variant is located in the 3' splice region, but does not alter the invariant -1 or -2 positions. Computational tools do not predict altered splici ng, though this information is not predictive enough to rule out pathogenicity. While the frequency of this variant suggests that it is more likely benign, it i s too low to confidently rule out a disease causing role. Additional information is needed to fully assess its clinical significance.
GeneDx	RCV000037343	SCV000518327	benign	not specified	2015-09-15	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	RCV002054655	SCV002433481	benign	Dilated cardiomyopathy 1JJ	2024-01-16	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000037343	SCV004803806	benign	not specified	2024-01-28	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037343	SCV001921727	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701576	SCV001931618	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001701576	SCV001957242	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001701576	SCV001968866	likely benign	not provided		no assertion criteria provided	clinical testing