ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.13106G>A (p.Arg4369Gln)

gnomAD frequency: 0.00503  dbSNP: rs141939315
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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 RCV000502891 SCV000593136 benign not specified 2016-03-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000961062 SCV001108091 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496937 SCV002794836 likely benign Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 2022-05-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000961062 SCV004009981 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing ANK3: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000961062 SCV005220795 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004535575 SCV004744738 benign ANK3-related disorder 2021-03-26 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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