ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.5150A>T (p.Glu1717Val)

gnomAD frequency: 0.00003  dbSNP: rs551558075
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001813818 SCV002061034 uncertain significance not provided 2023-05-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function
Diagnostic Laboratory, Strasbourg University Hospital RCV001249520 SCV001423510 uncertain significance Intellectual disability 2018-12-01 no assertion criteria provided clinical testing

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