ClinVar Miner

Submissions for variant NM_004523.4(KIF11):c.3016A>G (p.Ile1006Val)

gnomAD frequency: 0.00016  dbSNP: rs187743871
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002131993 SCV002406270 benign not provided 2023-01-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003978702 SCV004798623 likely benign KIF11-related disorder 2021-05-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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