ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.561G>A (p.Pro187=)

gnomAD frequency: 0.00003  dbSNP: rs763643660
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001408997 SCV001611007 likely benign Myofibrillar myopathy 4 2024-02-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350783 SCV002651512 likely benign Cardiovascular phenotype 2019-12-15 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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