ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg) (rs186882839)

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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 RCV000680013 SCV000807452 pathogenic Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 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 in trans with a nonsense mutation in a newborn female with MRI suggestive of Walker-Warburg, microphthalmia, possible cataract, encephalocele, hypotonia, dysmorhisms

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