ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6366C>T (p.Asp2122=)

gnomAD frequency: 0.00026  dbSNP: rs202049186
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002312360 SCV000846563 likely benign Inborn genetic diseases 2017-03-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000870855 SCV001012405 likely benign KBG syndrome 2023-10-22 criteria provided, single submitter clinical testing
GeneDx RCV001557420 SCV001779178 likely benign not provided 2020-06-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953264 SCV004767863 likely benign ANKRD11-related condition 2019-10-04 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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