ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.2605G>A (p.Val869Ile) (rs116207524)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000081949 SCV000113884 benign not specified 2013-01-04 criteria provided, single submitter clinical testing
GeneDx RCV001719844 SCV000241704 benign not provided 2020-01-13 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000081949 SCV000614055 likely benign not specified 2017-06-09 criteria provided, single submitter clinical testing
Invitae RCV000986827 SCV000645793 likely benign Mental retardation, autosomal dominant 1 2020-11-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715075 SCV000845900 benign History of neurodevelopmental disorder 2020-01-23 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Subpopulation frequency in support of benign classification
Mendelics RCV000986827 SCV001135965 likely benign Mental retardation, autosomal dominant 1 2019-05-28 criteria provided, single submitter clinical testing

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