ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.1249_1263del (p.Met417_Ser421del)

dbSNP: rs1559086500
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000678973 SCV000805189 uncertain significance Intellectual disability, autosomal dominant 1 2018-06-04 criteria provided, single submitter clinical testing

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