ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.9349A>G (p.Ile3117Val)

gnomAD frequency: 0.07385  dbSNP: rs28932171
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001520011 SCV001729002 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001520011 SCV005322792 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000116348 SCV000150269 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.
PreventionGenetics, part of Exact Sciences RCV004542836 SCV004788009 benign ANK3-related disorder 2019-11-25 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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