ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.255C>A (p.Cys85Ter)

dbSNP: rs1114167289
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000491322 SCV000282198 pathogenic Borjeson-Forssman-Lehmann syndrome 2016-01-10 no assertion criteria provided research

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