ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.3021C>T (p.Ile1007=)

gnomAD frequency: 0.00034  dbSNP: rs142488318
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082816 SCV000114864 uncertain significance not provided 2013-10-21 criteria provided, single submitter clinical testing
Invitae RCV001437227 SCV001640079 likely benign Acrocallosal syndrome 2023-10-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000082816 SCV004130860 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing KIF7: BP4, BP7

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