ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1521C>T (p.Thr507=)

gnomAD frequency: 0.00006  dbSNP: rs200838004
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698203 SCV000526646 likely benign not provided 2020-12-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001404086 SCV001605975 likely benign Myofibrillar myopathy 4 2023-08-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002392999 SCV002705319 likely benign Cardiovascular phenotype 2022-08-20 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 RCV003330671 SCV004038174 benign not specified 2023-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001698203 SCV005221830 likely benign not provided criteria provided, single submitter not provided

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