ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.1221C>G (p.Ala407=)

dbSNP: rs886051535
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 RCV002118304 SCV002444374 likely benign Acrocallosal syndrome 2023-10-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003395409 SCV004130871 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing KIF7: BP4, BP7

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