ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.3001C>T (p.Gln1001Ter) (rs387907045)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics,University of Zurich RCV000023883 SCV000579459 pathogenic Acrocallosal syndrome 2017-05-18 criteria provided, single submitter clinical testing
OMIM RCV000023883 SCV000045174 pathogenic Acrocallosal syndrome 2011-06-01 no assertion criteria provided literature only

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