ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.5065del (p.Leu1689fs) (rs1567566026)

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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, RCV000679911 SCV000807342 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 an 11-month-old male with delays, short stature, dysmorphic features, microcephaly, cryptorchidism, unilateral hearing loss.

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