ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.801G>A (p.Glu267=)

gnomAD frequency: 0.00002  dbSNP: rs369972213
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000609766 SCV000719104 likely benign not specified 2017-05-05 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 RCV000868906 SCV001010288 likely benign Left ventricular noncompaction 8 2023-03-20 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000609766 SCV001919397 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001726260 SCV001963516 likely benign not provided no assertion criteria provided clinical testing

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