ClinVar Miner

Submissions for variant NM_006734.4(HIVEP2):c.6626_6627del (p.Tyr2209fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV002280082 SCV002568853 pathogenic not provided criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002280082 SCV005435401 uncertain significance not provided 2024-09-01 criteria provided, single submitter clinical testing HIVEP2: PM2, PVS1:Moderate

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