ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1200T>G (p.Thr400=)

gnomAD frequency: 0.00001  dbSNP: rs1447980981
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611130 SCV000725330 likely benign not specified 2017-12-04 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 RCV000871547 SCV001013224 likely benign Myofibrillar myopathy 4 2022-04-08 criteria provided, single submitter clinical testing

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