ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.2950G>A (p.Val984Ile)

gnomAD frequency: 0.00072  dbSNP: rs145648026
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Total submissions: 6
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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 RCV000037358 SCV000061015 likely benign not specified 2012-07-06 criteria provided, single submitter clinical testing Val977Ile in exon 22 of LAMA4: This variant is not expected to have clinical sig nificance because it has been identified in 0.3% (12/4406) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS/;rs145648026). Val977Ile in exon 22 of LAMA4 (rs145 648026; allele frequency = 0.3%, 12/4406) **
GeneDx RCV001534592 SCV000515979 likely benign not provided 2020-03-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24503780)
Invitae RCV000865563 SCV001006553 likely benign Dilated cardiomyopathy 1JJ 2023-11-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001534592 SCV001919780 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001534592 SCV001930806 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001534592 SCV001975265 likely benign not provided no assertion criteria provided clinical testing

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