ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.2385T>C (p.Asn795=)

gnomAD frequency: 0.00014  dbSNP: rs372094828
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194922 SCV000246381 uncertain significance not specified 2015-08-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003417698 SCV004125449 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing ANK3: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003417698 SCV004617793 likely benign not provided 2024-11-12 criteria provided, single submitter clinical testing

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