ClinVar Miner

Submissions for variant NM_015107.3(PHF8):c.377del (p.Leu126fs) (rs1057518729)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000414958 SCV000328855 pathogenic Syndromic X-linked intellectual disability Siderius type 2014-04-18 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in KIAA2022 (NM_001008537.2, c.4248dupT) and PHF8 (NM_015107.2, c.377delT) in one individual with reported features of prematurity, global developmental delay, developmental regression, intellectual disability, dysmorphic features, and flat feet. The PHF8 variant is categorized as deleterious according to ACMGG guidelines [PMID: 18414213].

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