ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6985G>A (p.Val2329Met)

dbSNP: rs760933701
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001213507 SCV001385141 likely benign KBG syndrome 2023-09-10 criteria provided, single submitter clinical testing
GeneDx RCV001549820 SCV001770042 likely benign not provided 2019-05-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928787 SCV004746268 likely benign ANKRD11-related condition 2023-02-22 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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