ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.1358-12A>G

gnomAD frequency: 0.00003  dbSNP: rs397516716
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037332 SCV000060989 uncertain significance not specified 2012-09-21 criteria provided, single submitter clinical testing The 1337-12A>G variant in LAMA4 has not been reported in the literature nor prev iously identified by our laboratory. This variant is located in the 3' splice re gion. Computational tools do not suggest an impact to splicing. However, this in formation is not predictive enough to rule out pathogenicity. Additional informa tion is needed to fully assess the clinical significance of the 1337-12A>G varia nt.
Labcorp Genetics (formerly Invitae), Labcorp RCV002054654 SCV002343558 likely benign Dilated cardiomyopathy 1JJ 2024-02-24 criteria provided, single submitter clinical testing

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