ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.10749G>A (p.Thr3583=)

gnomAD frequency: 0.00001  dbSNP: rs985040592
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002079668 SCV002427576 likely benign not provided 2024-10-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002079668 SCV004033044 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing ANK3: BP4, BP7

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