ClinVar Miner

Submissions for variant NM_014875.3(KIF14):c.2136C>T (p.Asn712=)

gnomAD frequency: 0.00101  dbSNP: rs145353826
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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 RCV001817162 SCV002064935 likely benign not specified 2019-11-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074271 SCV002407487 benign not provided 2023-12-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002074271 SCV002585173 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing KIF14: BP4, BP7

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