ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1231+19G>A

gnomAD frequency: 0.00006  dbSNP: rs763969244
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183524 SCV000235987 benign not specified 2014-08-27 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002054182 SCV002433025 likely benign Myofibrillar myopathy 4 2024-12-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503717 SCV002811309 likely benign Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 2021-09-29 criteria provided, single submitter clinical testing

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