ClinVar Miner

Submissions for variant NM_001318852.2(MAPK8IP3):c.111C>G (p.Tyr37Ter)

dbSNP: rs770703007
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000735203 SCV000863409 likely pathogenic MAPK8IP3-related disorder 2018-10-11 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000779602 SCV001146830 likely pathogenic Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 2019-10-02 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Neurodevelopmental disorder with or without variable brain abnormalities, autosomal dominant. The following ACMG Tag(s) were applied: PM2, PVS1-Strong.
Institute of Human Genetics, University of Leipzig Medical Center RCV000779602 SCV001335363 likely pathogenic Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 2019-02-07 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).
OMIM RCV000779602 SCV000916280 pathogenic Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 2019-05-23 no assertion criteria provided literature only

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