ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.3525C>T (p.Leu1175=)

gnomAD frequency: 0.00011  dbSNP: rs145915541
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001726967 SCV001961539 likely benign not provided 2021-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073392 SCV002479627 likely benign Acrocallosal syndrome 2025-01-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003941108 SCV004753062 likely benign KIF7-related disorder 2019-07-22 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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