ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.2047_2048del (p.Lys683fs) (rs1567579092)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679908 SCV000807339 pathogenic KBG syndrome 2017-09-01 criteria provided, single submitter clinical testing This frameshift mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory in a 2-year-old male with global delays, autism, hypertonia, dysmorphic features, abnormal teeth, microcephaly, skeletal abnormalities, and cryptorchidism.

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