ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.6953A>G (p.Lys2318Arg)

gnomAD frequency: 0.00532  dbSNP: rs59021407
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000434182 SCV000511063 likely benign not provided 2017-01-09 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000434182 SCV001037318 benign not provided 2025-01-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530523 SCV004723277 benign ANK3-related disorder 2024-01-18 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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