ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6977C>T (p.Ala2326Val)

dbSNP: rs576742682
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001616445 SCV001840165 benign not provided 2020-03-13 criteria provided, single submitter clinical testing
Invitae RCV002070483 SCV002329451 benign KBG syndrome 2024-01-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002070483 SCV002525154 benign KBG syndrome 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002370249 SCV002667997 likely benign Inborn genetic diseases 2023-05-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
PreventionGenetics, part of Exact Sciences RCV003966250 SCV004783621 likely benign ANKRD11-related disorder 2021-11-09 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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