ClinVar Miner

Submissions for variant NM_001098511.3(KIF2A):c.1701C>G (p.Gly567=)

gnomAD frequency: 0.00163  dbSNP: rs186954229
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424982 SCV000530816 likely benign not specified 2016-08-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000896836 SCV001040947 benign not provided 2024-01-07 criteria provided, single submitter clinical testing

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