ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.8534G>A (p.Gly2845Glu)

gnomAD frequency: 0.00126  dbSNP: rs139022925
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194952 SCV000246407 uncertain significance not specified 2015-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763662 SCV000894542 uncertain significance Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056979 SCV002407647 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002056979 SCV004125425 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing ANK3: BS2
PreventionGenetics, part of Exact Sciences RCV004530096 SCV004754666 likely benign ANK3-related disorder 2022-12-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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