ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.63-5800_1271del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001293380 SCV001481837 likely pathogenic Epilepsy; Intellectual disability 2021-02-25 no assertion criteria provided clinical testing The variant chrX:g.153296044_153303808del, MECP2(NM_004992.4):c.(27-5800_1235)del,p.0? was identified in an individual with NDD + Epilepsy. Inheritance was not applicable (heterozygous). The variant was reviewed according to current ACMG recommendations and classified as Likely Pathogenic (criteria: PSV1_VeryStrong, PM2_Supporting).

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