ClinVar Miner

Submissions for variant NM_001367805.3(KIF23):c.213T>C (p.Thr71=)

gnomAD frequency: 0.00055  dbSNP: rs145233110
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001786000 SCV002027732 likely benign not provided 2021-04-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001786000 SCV002429223 benign not provided 2023-12-27 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001786000 SCV002541281 uncertain significance not provided 2021-04-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001786000 SCV004132751 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing KIF23: BP4, BP7

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