ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.318G>A (p.Gln106=)

gnomAD frequency: 0.00004  dbSNP: rs760617777
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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 RCV001405865 SCV001607805 likely benign Myofibrillar myopathy 4 2023-10-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002320362 SCV002610839 likely benign Cardiovascular phenotype 2019-09-19 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.
Clinical Genetics, Academic Medical Center RCV001091335 SCV001921821 likely benign not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001091335 SCV001963104 likely benign not provided no assertion criteria provided clinical testing

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