ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1962G>A (p.Glu654=)

gnomAD frequency: 0.00003  dbSNP: rs201063130
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473750 SCV000545682 likely benign Myofibrillar myopathy 4 2024-01-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810949 SCV002047832 likely benign not provided 2020-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418366 SCV002722167 likely benign Cardiovascular phenotype 2019-03-01 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.
Fulgent Genetics, Fulgent Genetics RCV002489025 SCV002797449 likely benign Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 2021-08-11 criteria provided, single submitter clinical testing

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