ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.867C>A (p.Tyr289Ter)

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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, RCV000679912 SCV000807343 pathogenic KBG syndrome 2017-09-01 criteria provided, single submitter clinical testing This nonsense mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory in a 1-year-old male with VSD, PDA, microcephaly, dysmorphic features, delays, hypotonia. Inherited from mother with similar dysmorphisms, short stature, small head, learning disabilities.

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