ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.945C>G (p.Ile315Met)

dbSNP: rs61751439
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030167 SCV000052825 uncertain significance Rett syndrome 2015-05-26 no assertion criteria provided clinical testing
RettBASE RCV000133285 SCV000188293 uncertain significance X-linked intellectual disability-psychosis-macroorchidism syndrome 2012-09-27 no assertion criteria provided curation

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