ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.113+4A>G

gnomAD frequency: 0.00004  dbSNP: rs201821636
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599874 SCV000728682 likely benign not specified 2017-06-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001397015 SCV001598753 likely benign Intellectual disability, autosomal dominant 1 2024-12-02 criteria provided, single submitter clinical testing

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