ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.540A>G (p.Leu180=)

gnomAD frequency: 0.00001  dbSNP: rs1283051092
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608449 SCV000722659 likely benign not specified 2017-09-12 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 RCV001798922 SCV002043382 likely benign Cardiomyopathy 2020-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350486 SCV002650490 likely benign Cardiovascular phenotype 2019-10-20 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002531564 SCV003245235 likely benign Myofibrillar myopathy 4 2022-05-31 criteria provided, single submitter clinical testing

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