ClinVar Miner

Submissions for variant NM_001098511.2(KIF2A):c.382T>C (p.Ser128Pro) (rs138408434)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000921097 SCV001066489 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000627065 SCV000678243 uncertain significance Cortical dysplasia, complex, with other brain malformations 3 2017-12-08 no assertion criteria provided clinical testing The observed variant c.382T>C (p.S128P) has a minor allele frequency of 0.1% in The 1000 Genomes database and 0.15% in ExAC databases. The in silico prediction of the variant is damaging by MutationTaster2.

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