ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.217-1G>C

dbSNP: rs1707171202
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Hue University of Medicine and Pharmacy RCV001250386 SCV001372471 pathogenic Intellectual disability, autosomal dominant 1 2019-12-17 criteria provided, single submitter clinical testing intellectual disability, epilepsy, autism
OMIM RCV001250386 SCV002587815 pathogenic Intellectual disability, autosomal dominant 1 2022-10-28 no assertion criteria provided literature only

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