ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2286C>A (p.Gly762=)

gnomAD frequency: 0.00006  dbSNP: rs779180324
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002216932 SCV002369877 likely benign Acrocallosal syndrome 2025-01-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003395378 SCV004130867 likely benign not provided 2024-12-01 criteria provided, single submitter clinical testing KIF7: BP4, BP7

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