ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.2886_2887CT[1] (p.Ser963fs) (rs1569335265)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000680021 SCV000807460 pathogenic Mental retardation, X-linked 98 2017-09-01 criteria provided, single submitter clinical testing This frameshift mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory de novo in a 12-year-old female with intellectual disability, seizures, obesity

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