ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.1245C>T (p.Asp415=)

gnomAD frequency: 0.00490  dbSNP: rs79499872
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313585 SCV000848697 benign Inborn genetic diseases 2016-06-23 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV000870670 SCV001012195 benign KBG syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001613443 SCV001842338 likely benign not provided 2020-12-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000870670 SCV002524206 benign KBG syndrome 2021-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938071 SCV004747607 likely benign ANKRD11-related condition 2019-04-02 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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