ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.657G>A (p.Thr219=)

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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 RCV002710284 SCV002997856 likely benign Acrocallosal syndrome 2024-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005008708 SCV005640361 uncertain significance Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 2024-03-27 criteria provided, single submitter clinical testing

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