ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.843C>T (p.His281=)

gnomAD frequency: 0.00003  dbSNP: rs201199516
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000651671 SCV000773525 likely benign Left ventricular noncompaction 8 2024-04-09 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700290 SCV001918544 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724117 SCV001959448 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001724117 SCV001970472 likely benign not provided no assertion criteria provided clinical testing

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