ClinVar Miner

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

dbSNP: rs761636251
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics 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.
CeGaT Center for Human Genetics Tuebingen RCV001200610 SCV001371616 pathogenic not provided 2021-03-01 criteria provided, single submitter clinical testing

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