ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.3154G>A (p.Ala1052Thr)

gnomAD frequency: 0.00072  dbSNP: rs113879347
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001701098 SCV000716491 likely benign not provided 2021-05-03 criteria provided, single submitter clinical testing
Invitae RCV000861447 SCV001001759 likely benign Left ventricular noncompaction 8 2024-01-08 criteria provided, single submitter clinical testing
Genetics and Genomics Program, Sidra Medicine RCV001293179 SCV001434177 likely benign Primary dilated cardiomyopathy criteria provided, single submitter research
Clinical Genetics, Academic Medical Center RCV001701098 SCV001921247 likely benign not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001701098 SCV001963477 likely benign not provided no assertion criteria provided clinical testing

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