ClinVar Miner

Submissions for variant NM_001198.4(PRDM1):c.1348C>T (p.Leu450Phe)

gnomAD frequency: 0.00812  dbSNP: rs141465160
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003430680 SCV004159920 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing PRDM1: BP4, BS2
ITMI RCV000121872 SCV000086074 not provided not specified 2013-09-19 no assertion provided reference population

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