ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.2406G>A (p.Pro802=)

gnomAD frequency: 0.00063  dbSNP: rs368750536
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712293 SCV000532721 likely benign not provided 2020-10-05 criteria provided, single submitter clinical testing
Invitae RCV000861523 SCV001001866 benign Left ventricular noncompaction 8 2024-01-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000438891 SCV004038547 benign not specified 2023-08-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001712293 SCV004128002 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing PRDM16: BP4, BP7
Clinical Genetics, Academic Medical Center RCV000438891 SCV001923841 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001712293 SCV001959577 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001712293 SCV001966180 likely benign not provided no assertion criteria provided clinical testing

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