ClinVar Miner

Submissions for variant NM_007363.5(NONO):c.1171+1G>T

dbSNP: rs876661316
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
emedgene Technologies RCV000223722 SCV000267193 pathogenic Syndromic X-linked intellectual disability 34 2016-02-01 no assertion criteria provided research For more information see: Reinstein et al. "Intellectual disability and non-compaction cardiomyopathy with a de-novo NONO mutation identified by exome sequencing"
Daryl Scott Lab, Baylor College of Medicine RCV000223722 SCV000992535 pathogenic Syndromic X-linked intellectual disability 34 2019-09-16 no assertion criteria provided clinical testing

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