ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.7327C>T (p.Gln2443Ter)

dbSNP: rs1555524861
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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 RCV000622818 SCV000742844 pathogenic Inborn genetic diseases 2017-08-07 criteria provided, single submitter clinical testing
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine RCV002510579 SCV002820133 pathogenic KBG syndrome criteria provided, single submitter clinical testing This variant has been reported to the ClinVar database as Pathogenic but no details are available for independent assessment. The nucleotide change in ANKRD11 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. Loss of function variants have been previously reported to be disease causing. Hence the above variant has been classified as Pathogenic.

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