ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.148_152del (p.Glu50fs)

dbSNP: rs1603310867
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV001004017 SCV001162078 likely pathogenic Facial hypertrichosis; Congenital laryngomalacia; Dystonic disorder; Stridor; Bulbar palsy; Sick sinus syndrome; Progressive neurologic deterioration; Central apnea; Abnormal muscle fiber morphology; Motor neuron atrophy; Central hypotonia; Abnormal synaptic transmission no assertion criteria provided research

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