ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.10055A>G (p.Glu3352Gly)

gnomAD frequency: 0.00329  dbSNP: rs61845768
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194346 SCV000246369 benign not specified 2019-01-16 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000194346 SCV000856283 likely benign not specified 2017-08-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000959107 SCV001105996 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000959107 SCV001500911 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing ANK3: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000959107 SCV005220799 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004530092 SCV004734141 benign ANK3-related disorder 2021-09-20 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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