ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.3753G>T (p.Leu1251=)

dbSNP: rs140121479
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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) RCV000731106 SCV000858883 uncertain significance not provided 2018-01-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060999 SCV002400294 likely benign Acrocallosal syndrome 2022-08-22 criteria provided, single submitter clinical testing

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