ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.433C>A (p.Arg145Ser)

dbSNP: rs28934904
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000659187 SCV000781004 likely pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001266416 SCV001444590 likely pathogenic Inborn genetic diseases 2018-04-17 criteria provided, single submitter clinical testing

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