ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.2157G>A (p.Lys719=)

gnomAD frequency: 0.00001  dbSNP: rs758201230
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001476773 SCV001680986 likely benign Myofibrillar myopathy 4 2023-08-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002432333 SCV002727036 likely benign Cardiovascular phenotype 2022-04-04 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005237846 SCV005885894 likely benign not specified 2025-02-19 criteria provided, single submitter clinical testing

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