ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.4475T>G (p.Ile1492Ser)

dbSNP: rs762922278
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174387 SCV000225678 uncertain significance not provided 2015-03-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001468644 SCV001672702 likely benign Intellectual disability, autosomal dominant 1 2020-04-26 criteria provided, single submitter clinical testing
GeneDx RCV000174387 SCV001992147 uncertain significance not provided 2019-02-07 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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