ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.11366A>G (p.Asn3789Ser)

gnomAD frequency: 0.00043  dbSNP: rs144123544
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000905299 SCV001049877 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000905299 SCV001147901 uncertain significance not provided 2018-10-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003932898 SCV004748509 likely benign ANK3-related condition 2024-01-08 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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