ClinVar Miner

Submissions for variant NM_003688.3(CASK):c.79C>T (p.Arg27Ter) (rs794727270)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000175755 SCV000807257 pathogenic Mental retardation and microcephaly with pontine and cerebellar hypoplasia 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously reported as disease-causing and was found once in our laboratory de novo in a 1-month-old male with hypotonia, myoclonic seizures, dysmorphic features, failure to thrive, microcephaly, brain anomalies (simplified sulcation, delayed myelination, diminutive brainstem & cerebellum), concealed penis.
Dobyns Lab,Seattle Children's Research Institute RCV000175755 SCV000916335 pathogenic Mental retardation and microcephaly with pontine and cerebellar hypoplasia 2019-02-18 no assertion criteria provided research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723984 SCV000227295 pathogenic not provided 2014-06-12 criteria provided, single submitter clinical testing

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