ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.29_30dup (p.Pro11fs)

dbSNP: rs1556013203
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000578312 SCV000680332 pathogenic Borjeson-Forssman-Lehmann syndrome 2017-12-09 criteria provided, single submitter clinical testing

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