ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6977C>G (p.Ala2326Gly)

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
Athena Diagnostics Inc RCV000991531 SCV001143029 benign not provided 2018-09-18 criteria provided, single submitter clinical testing
GeneDx RCV000991531 SCV001768075 likely benign not provided 2021-03-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253763 SCV002525155 benign KBG syndrome 2021-12-05 criteria provided, single submitter clinical testing
Invitae RCV002253763 SCV003248293 benign KBG syndrome 2023-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002549761 SCV003756376 likely benign Inborn genetic diseases 2021-09-15 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.

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