ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.1458_1459AG[2] (p.Ser488fs) (rs1555529645)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622622 SCV000743027 pathogenic Inborn genetic diseases 2017-10-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Baylor Miraca Genetics Laboratories, RCV000679906 SCV000807337 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 as a de novo finding in a 4-year-old female with global delays, stuttering, and epilepsy.

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