ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.891G>A (p.Arg297=)

gnomAD frequency: 0.00010  dbSNP: rs374336814
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614811 SCV000729065 benign not specified 2017-07-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000864810 SCV001005669 likely benign Myofibrillar myopathy 4 2023-08-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000614811 SCV002555934 benign not specified 2022-06-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377322 SCV002687345 likely benign Cardiovascular phenotype 2021-10-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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