ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.517-108226G>T (rs1057518676)

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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 RCV000415124 SCV000328758 uncertain significance Spinocerebellar ataxia, autosomal recessive 12 2014-04-30 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in GATAD2B (NM_020699.2, c.694C>T) and WWOX (NM_130791.2, c.548G>T and c.1231_1233del in trans) in one individual with reported features that include global developmental delay, developmental regression, joint pain after illness, hypotonia, ataxia, dysmorphic features (tall forehead, epicanthal folds and single palmar creases), congenital macrocephaly, anisocoria, astigmatism and strabismus, myopia, aortic valve dysplasia, upper respiratory infections, prenatal history of cystic hygroma and polyhydramnios, pes planus, and central apnea.

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