ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.936dup (p.Pro313fs)

dbSNP: rs2105627349
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Lab, University of California San Francisco RCV001376000 SCV001573005 likely pathogenic Intellectual disability, autosomal dominant 1 2019-06-06 criteria provided, single submitter clinical testing

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