ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.393C>T (p.Ile131=)

dbSNP: rs537169269
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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 RCV002165360 SCV002339175 likely benign Acrocallosal syndrome 2023-11-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003958510 SCV004783455 likely benign KIF7-related disorder 2022-02-11 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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