ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2727G>A (p.Glu909=)

gnomAD frequency: 0.00001  dbSNP: rs767533531
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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 RCV002125500 SCV002443857 likely benign Acrocallosal syndrome 2023-05-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004744305 SCV005346793 likely benign KIF7-related disorder 2024-06-22 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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