ClinVar Miner

Submissions for variant NM_000240.3(MAOA):c.749_750insT (p.Ser251fs) (rs796065311)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GOLD service, Hunter New England Health RCV000190423 SCV000191918 pathogenic Brunner syndrome 2014-11-10 criteria provided, single submitter clinical testing Phenotype consistent with described MAOA deficiency. Functional studies (bioamine levels in blood and urine) consistent with MAOA deficiency. Truncating mutation.
OMIM RCV000190423 SCV000747033 pathogenic Brunner syndrome 2015-03-23 no assertion criteria provided literature only

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