ClinVar Miner

Submissions for variant NM_021008.4(DEAF1):c.791A>C (p.Gln264Pro)

dbSNP: rs587777407
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000119805 SCV000590956 uncertain significance Intellectual disability, autosomal dominant 24 2017-09-01 criteria provided, single submitter clinical testing This variant has been previously reported arising de novo in a female patient with severe speech delay, intellectual disability, hypotonia, ataxia, fair hair, epicanthus, and full lips, but there is not sufficient information to categorize it as disease-causing. It was identified once in our laboratory de novo in a 11-year-old female with intellectual disability, dysmorphism, autistic features, epilepsy, hypotonia, ataxia.
OMIM RCV000119805 SCV000154730 pathogenic Intellectual disability, autosomal dominant 24 2014-05-01 no assertion criteria provided literature only

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