ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.689+3870C>T

dbSNP: rs1028583921
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute RCV001089623 SCV001245099 uncertain significance Hypertrophic cardiomyopathy 2018-10-16 criteria provided, single submitter research LDB3 c.3222-5C>T has not been previously reported and is absent in the Genome Aggregation Database (http://gnomad.broadinstitute.org/). We identified this variant in a HCM proband with no family history of disease. Splice prediction tools MaxEntScan and AdaBoost do not predict this variant to cause aberrant splicing. Therefore we classify this as a variant of 'uncertain significance'.
Invitae RCV003611546 SCV004400895 likely benign Myofibrillar myopathy 4 2023-03-27 criteria provided, single submitter clinical testing

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