ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.332G>A (p.Arg111Lys) (rs1057518718)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000415409 SCV000328837 likely pathogenic Rett syndrome 2014-06-30 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in F7 (NM_000131.4, c.1285G>A) and MECP2 (NM_004992.3, c.332G>A) in this individual with reported features of motor delay, intellectual disability, hypotonia, bilateral sensorineural hearing loss, skeletal abnormalities, hypertrichosis, and factor VII deficiency.

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