ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.7198_7200dup (p.Leu2400dup) (rs1371024836)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718493 SCV000849357 uncertain significance Autism spectrum disorder 2017-04-14 criteria provided, single submitter clinical testing The c.7198_7200dupCTG variant (also known as p.L2400dup), located in coding exon 7 of the ANKRD11 gene, results from an in-frame duplication of CTG at nucleotide positions 7198 to 7200. This results in the duplication of an extra residue between codons 2400 and 2401. This variant did not co-segregate with disease in four individuals tested in our laboratory. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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