ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.3055-9T>C (rs370173652)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188062 SCV000241666 benign not specified 2014-10-02 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.
Invitae RCV000230037 SCV000290460 benign Mental retardation, autosomal dominant 1 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000188062 SCV000339187 likely benign not specified 2016-01-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392347 SCV000416708 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000188062 SCV000614057 benign not specified 2016-12-15 criteria provided, single submitter clinical testing

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