ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6497T>G (p.Met2166Arg)

gnomAD frequency: 0.00879  dbSNP: rs74033733
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002314416 SCV000847957 benign Inborn genetic diseases 2016-10-07 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 RCV000870604 SCV001012121 benign KBG syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001572237 SCV001796842 likely benign not provided 2021-02-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000870604 SCV002525170 benign KBG syndrome 2021-12-05 criteria provided, single submitter clinical testing

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