ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.2940-15G>A

gnomAD frequency: 0.00004  dbSNP: rs538723120
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Total submissions: 3
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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 RCV000214743 SCV000272331 benign not specified 2019-07-08 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
GeneDx RCV000214743 SCV000715029 likely benign not specified 2017-08-16 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 RCV002518188 SCV003462015 likely benign Left ventricular noncompaction 8 2025-01-31 criteria provided, single submitter clinical testing

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