ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.423_428del (p.His142_Val143del) (rs1555425036)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics,University of Zurich RCV000604111 SCV000579218 likely pathogenic Acrocallosal syndrome, Schinzel type 2017-05-18 criteria provided, single submitter clinical testing This likely pathogenic variant is believed to be in compound heterozygosity with another pathogenic variant that has yet to be identified.

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