ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.1047C>T (p.Cys349=)

gnomAD frequency: 0.00580  dbSNP: rs117138204
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192365 SCV000246370 benign not specified 2018-01-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000952605 SCV001099120 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000952605 SCV001961219 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing ANK3: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000952605 SCV005228054 likely benign not provided criteria provided, single submitter not provided

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