ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6978C>T (p.Ala2326=)

gnomAD frequency: 0.00097  dbSNP: rs558301893
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000877065 SCV001019736 likely benign KBG syndrome 2024-01-04 criteria provided, single submitter clinical testing
GeneDx RCV001619857 SCV001844833 benign not provided 2019-01-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000877065 SCV002525153 benign KBG syndrome 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363311 SCV002664416 likely benign Inborn genetic diseases 2017-08-02 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.
CeGaT Center for Human Genetics Tuebingen RCV001619857 SCV004143423 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing ANKRD11: BP4, BP7, BS1

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