ClinVar Miner

Submissions for variant NM_016023.5(OTUD6B):c.379_383del (p.Leu127fs)

dbSNP: rs759317757
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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 RCV000491466 SCV000492515 pathogenic Epilepsy; Dysmorphic features; Intellectual disability 2017-01-09 criteria provided, single submitter research This variant was observed in one family: 2 affected sibs were homozygous. 1 brother was 9yo, severe intellectual disability, epilepsy, IUGR, microcephalic, hypotonia, failure to thrive, cryptorchidism, dysmorphic features, broad thumbs. Second brother was 3yo, severe delays, epilepsy, IUGR, microcephaly, hypotonia, failure to thrive, cortical and white matter atrophy, sacral dimple, VSD, cryptorchidism, dysmorphic features.
OMIM RCV000487729 SCV000574729 pathogenic Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 2017-05-03 no assertion criteria provided literature only
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000656282 SCV000778249 pathogenic not provided 2017-04-01 no assertion criteria provided clinical testing

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