ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter) (rs132630297)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000011812 SCV000291972 pathogenic Borjeson-Forssman-Lehmann syndrome 2016-06-09 criteria provided, single submitter research
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000011812 SCV000803878 pathogenic Borjeson-Forssman-Lehmann syndrome 2018-01-17 criteria provided, single submitter clinical testing
OMIM RCV000011812 SCV000032045 pathogenic Borjeson-Forssman-Lehmann syndrome 2004-10-01 no assertion criteria provided literature only

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