ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.1854G>A (p.Gln618=)

gnomAD frequency: 0.00001  dbSNP: rs587781014
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126553 SCV000170060 benign not specified 2014-05-24 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170695 SCV001333289 likely benign Cardiomyopathy 2017-11-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055658 SCV002492438 likely benign Dilated cardiomyopathy 1JJ 2023-09-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408632 SCV002716959 likely benign Cardiovascular phenotype 2020-12-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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