ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.2399G>A (p.Gly800Asp)

gnomAD frequency: 0.00004  dbSNP: rs201668347
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188096 SCV000241701 likely benign not provided 2020-01-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080557 SCV000645791 benign Intellectual disability, autosomal dominant 1 2024-11-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426907 SCV002731485 benign Inborn genetic diseases 2021-01-20 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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