ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.4020A>G (p.Ala1340=)

dbSNP: rs1273991401
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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 RCV001420103 SCV001622374 likely benign Intellectual disability, autosomal dominant 1 2024-10-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900448 SCV004716414 likely benign MBD5-related disorder 2021-01-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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