ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.689+15T>C

gnomAD frequency: 0.00004  dbSNP: rs375094467
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038766 SCV000062444 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing c.689+15T>C in Intron 04 of LDB3: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 1/7014 European American chromosomes from a broad populat ion by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS;).
Invitae RCV002054715 SCV002397299 likely benign Myofibrillar myopathy 4 2024-01-30 criteria provided, single submitter clinical testing

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