ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.1360C>T (p.Leu454=)

dbSNP: rs794727743
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179056 SCV000231248 uncertain significance not provided 2014-12-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002516786 SCV003025672 likely benign Acrocallosal syndrome 2022-10-09 criteria provided, single submitter clinical testing

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