ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.3122C>A (p.Ser1041Ter) (rs1057518663)

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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, RCV000414961 SCV000328736 pathogenic KBG syndrome 2016-05-01 no assertion criteria provided clinical testing Our laboratory reported two molecular diagnoses in ANKRD11 (NM_013275.5:c.3122C>A) and SLC6A1 (NM_003042.3:c.131G>A) in an individual with prematurity, delayed motor milestones, delayed speech, developmental regression, hearing loss, axial hypotonia, distal spasticity, seizure disorder, dysmorphic features, failure to thrive, feeding difficulties, and eye anomalies.

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