ClinVar Miner

Submissions for variant NM_001098511.2(KIF2A):c.938G>A (p.Gly313Glu) (rs1561273261)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network,NIH RCV000708562 SCV000837679 likely pathogenic Cortical dysplasia, complex, with other brain malformations 3 2018-04-10 criteria provided, single submitter clinical testing

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