ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.543C>T (p.Leu181=)

gnomAD frequency: 0.00006  dbSNP: rs148324530
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000864010 SCV001004751 likely benign Myofibrillar myopathy 4 2024-12-22 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171122 SCV001333802 likely benign Cardiomyopathy 2019-04-24 criteria provided, single submitter clinical testing
GeneDx RCV001585812 SCV001813321 likely benign not provided 2019-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345959 SCV002649061 likely benign Cardiovascular phenotype 2020-12-29 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.

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