ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.222C>T (p.Cys74=)

gnomAD frequency: 0.00006  dbSNP: rs527453026
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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 RCV000499949 SCV000595424 likely benign not specified 2016-09-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060121 SCV002487624 likely benign Acrocallosal syndrome 2024-01-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705629 SCV005213975 likely benign not provided criteria provided, single submitter not provided

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