ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.2508C>T (p.Gly836=)

gnomAD frequency: 0.00035  dbSNP: rs374271999
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001701029 SCV000618056 likely benign not provided 2020-10-15 criteria provided, single submitter clinical testing
Invitae RCV000543219 SCV000654379 benign Left ventricular noncompaction 8 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001701029 SCV004128006 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing PRDM16: BP4, BP7
Clinical Genetics, Academic Medical Center RCV001701029 SCV001918665 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001701029 SCV001955906 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701029 SCV001968911 likely benign not provided no assertion criteria provided clinical testing

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