ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.564C>T (p.Gly188=)

gnomAD frequency: 0.00004  dbSNP: rs753281302
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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 RCV002088353 SCV002387388 likely benign Myofibrillar myopathy 4 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002346415 SCV002652953 likely benign Cardiovascular phenotype 2020-06-02 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 RCV003994393 SCV004813000 likely benign not specified 2024-02-05 criteria provided, single submitter clinical testing

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