ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.3889_3891dup (p.Asn1297dup) (rs778998883)

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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 RCV000719907 SCV000850779 uncertain significance Autism spectrum disorder 2018-09-29 criteria provided, single submitter clinical testing The c.3889_3891dupAAC variant (also known as p.N1297dup), located in coding exon 7 of the ANKRD11 gene, results from an in-frame duplication of AAC at nucleotide positions 3889 to 3891. This results in the duplication of an extra residue between codons 1297 and 1298. This amino acid position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV001615044 SCV001841311 benign not provided 2020-06-12 criteria provided, single submitter clinical testing

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