ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.1083C>G (p.Ala361=)

gnomAD frequency: 0.00002  dbSNP: rs762513139
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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 RCV002218921 SCV002364618 likely benign Acrocallosal syndrome 2022-10-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003911299 SCV004721577 likely benign KIF7-related disorder 2022-09-07 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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