ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6469del (p.Glu2157fs)

dbSNP: rs2034054366
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253007 SCV001428505 likely pathogenic KBG syndrome 2018-10-17 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001255363 SCV001431693 likely pathogenic Intellectual disability 2020-08-03 criteria provided, single submitter clinical testing The variant c.6469del, p.(Glu2158Lysfs*17) was identified in an individual with neurodevelopmental disorder (NDD) and classified as Likely pathogenic according to ACMG guidelines. Inheritance for this variant was unknown.The variant likely explains the NDD in this individual.

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