ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.6066C>T (p.Ala2022=)

gnomAD frequency: 0.07406  dbSNP: rs17208576
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001520013 SCV001729004 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542834 SCV004787260 benign ANK3-related disorder 2019-11-25 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 RCV000116337 SCV000150258 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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