ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.569C>T (p.Pro190Leu) (rs1057518708)

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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 RCV000415467 SCV000328818 likely pathogenic ATR-X syndrome 2016-05-01 no assertion criteria provided clinical testing Our laboratory has reported dual molecular diagnoses in COL9A1 (NM_001851.4:c.876+2T>A) and ATRX (NM_000489.3:c.569C>T) in an individual with prematurity with intrauterine growth retardation, profound failure to thrive and global developmental delay, congenital heart disease, visual impairment, severe scoliosis, hypertonia/spasticity, joint contractures, microcephaly, intellectual disability, structural brain abnormality, bowel malrotation and obstruction, short stature, dysmorphic features, cleft uvula, genital anomalies and organomegaly.

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