ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.805A>T (p.Asn269Tyr)

dbSNP: rs768720064
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001248292 SCV001421765 likely benign Intellectual disability, autosomal dominant 1 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001773565 SCV002001706 uncertain significance not provided 2020-02-03 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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