ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.3327G>A (p.Thr1109=)

gnomAD frequency: 0.00019  dbSNP: rs575365743
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002217778 SCV002371558 likely benign Acrocallosal syndrome 2024-01-02 criteria provided, single submitter clinical testing

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