ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.934_935dup (p.Leu313fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005041708 SCV005683114 likely pathogenic Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome; Autism, susceptibility to, X-linked 3 2024-04-13 criteria provided, single submitter clinical testing

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