ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.4887G>A (p.Leu1629=)

gnomAD frequency: 0.00003  dbSNP: rs779662045
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000417551 SCV000513544 likely benign not specified 2016-09-16 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.
Eurofins Ntd Llc (ga) RCV000735100 SCV000863297 uncertain significance not provided 2018-09-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001501770 SCV001706587 likely benign Intellectual disability, autosomal dominant 1 2024-03-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003912622 SCV004731870 likely benign MBD5-related disorder 2019-06-07 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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