ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.3285G>A (p.Glu1095=)

gnomAD frequency: 0.00001  dbSNP: rs774461779
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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 RCV001409092 SCV001611103 likely benign Acrocallosal syndrome 2023-03-20 criteria provided, single submitter clinical testing

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