ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2586C>T (p.Arg862=)

gnomAD frequency: 0.00019  dbSNP: rs141097070
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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) RCV000174427 SCV000225725 uncertain significance not provided 2015-01-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001425627 SCV001628260 likely benign Acrocallosal syndrome 2024-10-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004742308 SCV005355696 likely benign KIF7-related disorder 2024-05-05 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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