ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.4317G>A (p.Lys1439=)

gnomAD frequency: 0.00210  dbSNP: rs61743619
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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 RCV002317967 SCV000849505 likely benign Inborn genetic diseases 2016-06-08 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 RCV000874943 SCV001017193 benign KBG syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001683647 SCV001898886 benign not provided 2019-02-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000874943 SCV002524175 benign KBG syndrome 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001683647 SCV004143483 benign not provided 2022-12-01 criteria provided, single submitter clinical testing ANKRD11: BP4, BS1, BS2

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