ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.708C>T (p.Thr236=) (rs34668206)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719636 SCV000850506 benign History of neurodevelopmental disorder 2017-02-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000467485 SCV000559595 likely benign FG syndrome 2016-04-01 criteria provided, single submitter clinical testing

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