ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.1898C>T (p.Pro633Leu)

gnomAD frequency: 0.14386  dbSNP: rs2493292
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Total submissions: 8
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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 RCV000221571 SCV000269724 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Pro633Leu in exon 9 of PRDM16: This variant is not expected to have clinical sig nificance because it has been identified in 15.4% (659/4286) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs2493292).
GeneDx RCV000221571 SCV000520305 benign not specified 2016-09-23 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 RCV001521977 SCV001731422 benign Left ventricular noncompaction 8 2024-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000221571 SCV003928552 likely benign not specified 2023-04-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001521977 SCV004048780 benign Left ventricular noncompaction 8 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713416 SCV005281430 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000221571 SCV001922147 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000221571 SCV001974614 benign not specified no assertion criteria provided clinical testing

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