ClinVar Miner

Submissions for variant NM_001286.5(CLCN6):c.1658A>G (p.Tyr553Cys)

dbSNP: rs1644918844
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital RCV001290031 SCV001426224 pathogenic Global developmental delay; Motor delay; Feeding difficulties; EEG abnormality; Neurogenic bladder; Abnormality of vision; Abnormality of the skin; Abnormality of the respiratory system; Abnormal speech pattern; Abnormality of temperature regulation; Hypotonia; Movement disorder 2020-07-01 criteria provided, single submitter research
Undiagnosed Diseases Network, NIH RCV001291033 SCV001736876 uncertain significance Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities 2021-04-28 criteria provided, single submitter clinical testing
OMIM RCV001291033 SCV001479327 pathogenic Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities 2024-09-03 no assertion criteria provided literature only

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