ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2896-9T>C

gnomAD frequency: 0.00001  dbSNP: rs746943281
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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 RCV002113891 SCV002440625 likely benign Acrocallosal syndrome 2023-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005017139 SCV005642891 uncertain significance Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 2024-03-20 criteria provided, single submitter clinical testing

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