ClinVar Miner

Submissions for variant NM_001370100.5(ZMYND11):c.383del (p.Ser128fs)

dbSNP: rs1135401771
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000496105 SCV000586712 pathogenic Intellectual disability, autosomal dominant 30 2017-08-01 criteria provided, single submitter clinical testing LOF variant in a patient with feeding difficulties, severe ID, febrile seizures, epilepsy, aggressivity, obesity, macrocephaly, hypotonia, ataxic gait. Variant was inherited from the milder affected father.

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