ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.888C>T (p.Ser296=)

gnomAD frequency: 0.00461  dbSNP: rs17073495
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Total submissions: 9
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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 RCV000037399 SCV000061056 benign not specified 2012-07-06 criteria provided, single submitter clinical testing Ser289Ser in Exon 08 of LAMA4: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 1.3% (48/3738) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs17073495).
GeneDx RCV000037399 SCV000250519 benign not specified 2014-09-04 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.
Invitae RCV000231375 SCV000287338 benign Dilated cardiomyopathy 1JJ 2024-01-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000231375 SCV001159565 benign Dilated cardiomyopathy 1JJ 2020-01-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531017 SCV001745951 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037399 SCV003929142 benign not specified 2023-04-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000231375 SCV000734455 likely benign Dilated cardiomyopathy 1JJ no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000037399 SCV001921046 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000037399 SCV001973516 benign not specified no assertion criteria provided clinical testing

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