ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.5340A>G (p.Thr1780=)

gnomAD frequency: 0.00050  dbSNP: rs139241892
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195454 SCV000250513 benign not specified 2015-04-28 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000467618 SCV000556698 benign Dilated cardiomyopathy 1JJ 2023-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619313 SCV000736955 likely benign Cardiovascular phenotype 2016-11-29 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.
Fulgent Genetics, Fulgent Genetics RCV000467618 SCV002795059 likely benign Dilated cardiomyopathy 1JJ 2021-10-01 criteria provided, single submitter clinical testing

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