ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.382A>G (p.Thr128Ala)

gnomAD frequency: 0.01080  dbSNP: rs114937210
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Total submissions: 4
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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 RCV000514415 SCV000609644 likely benign not provided 2017-08-11 criteria provided, single submitter clinical testing
Invitae RCV000514415 SCV001120542 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915135 SCV004744889 benign ANK3-related condition 2021-08-09 criteria provided, single submitter 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).
Genetic Services Laboratory, University of Chicago RCV000116333 SCV000150254 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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