ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.3822C>T (p.Ala1274=)

gnomAD frequency: 0.04130  dbSNP: rs61741725
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425585 SCV000518350 benign not specified 2015-09-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000425585 SCV000612331 benign not specified 2017-06-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311454 SCV000846308 benign Inborn genetic diseases 2016-04-19 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 RCV001511267 SCV001718478 benign KBG syndrome 2024-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001511267 SCV002524181 benign KBG syndrome 2021-12-05 criteria provided, single submitter clinical testing

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