ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.456T>A (p.Ala152=) (rs149106800)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000154744 SCV000170050 benign not specified 2014-03-13 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154744 SCV000204424 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Ala152Ala in exon 5 of LAMA4: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence. It has been identified in 0.1% (3/3738) of Africa n American chromosomes from a broad population by the NHLBI Exome Sequencing Pro ject (http://evs.gs.washington.edu/EVS; dbSNP rs149106800). Ala152Ala in exon 5 of LAMA4 (rs149106800; allele frequency = 0.1%, 3/3738) **
Invitae RCV000858325 SCV000654015 likely benign not provided 2018-11-07 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000555898 SCV000734457 likely benign Dilated cardiomyopathy 1JJ no assertion criteria provided clinical testing

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