ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.3309dup (p.Asp1104fs)

dbSNP: rs772267579
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090540 SCV001246145 pathogenic not provided 2018-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001090540 SCV001769714 pathogenic not provided 2022-12-16 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 32581362, 32124548, 34971082)
Institute of Human Genetics, Heidelberg University RCV001788394 SCV002556340 pathogenic KBG syndrome 2022-05-02 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV001788394 SCV002580306 pathogenic KBG syndrome 2021-09-10 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003617 SCV001162028 likely pathogenic Abnormality of the nervous system no assertion criteria provided research
Pediatric Genetics Clinic, Sheba Medical Center RCV001788394 SCV001712152 pathogenic KBG syndrome 2021-05-13 no assertion criteria provided clinical testing

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