ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.418G>A (p.Ala140Thr)

dbSNP: rs864309532
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute RCV000202613 SCV000257562 pathogenic Borjeson-Forssman-Lehmann syndrome 2015-12-15 criteria provided, single submitter research

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