ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6111C>G (p.Val2037=)

gnomAD frequency: 0.00045  dbSNP: rs376468392
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000877959 SCV001020781 benign KBG syndrome 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001644855 SCV001859059 benign not provided 2020-03-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000877959 SCV002525178 benign KBG syndrome 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354706 SCV002655462 likely benign Inborn genetic diseases 2017-10-17 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.
PreventionGenetics, part of Exact Sciences RCV003967949 SCV004783432 likely benign ANKRD11-related condition 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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