ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.1119del (p.Val374fs)

dbSNP: rs1680695228
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV001255696 SCV001430974 likely pathogenic Intellectual disability, autosomal dominant 1 no assertion criteria provided clinical testing

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