ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.884+7C>T

gnomAD frequency: 0.00012  dbSNP: rs373228175
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000613789 SCV000726793 likely benign not specified 2018-01-16 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 RCV000866237 SCV001007305 likely benign Left ventricular noncompaction 8 2024-12-10 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000613789 SCV001920303 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724081 SCV001957301 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001724081 SCV001964521 likely benign not provided no assertion criteria provided clinical testing

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