ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.2751C>G (p.Ser917Arg)

gnomAD frequency: 0.00002  dbSNP: rs935799783
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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 RCV000804803 SCV000944733 likely benign Intellectual disability, autosomal dominant 1 2024-05-17 criteria provided, single submitter clinical testing
GeneDx RCV000828971 SCV000970679 likely benign not provided 2018-06-07 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.

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