ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1152_1155del (p.His384fs)

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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, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV002463404 SCV002757828 likely pathogenic Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome 2020-08-21 criteria provided, single submitter clinical testing

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