ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2538G>A (p.Thr846=)

gnomAD frequency: 0.00003  dbSNP: rs746816055
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 RCV001412137 SCV001614214 likely benign Acrocallosal syndrome 2023-12-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003389853 SCV004130864 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing KIF7: BP4, BP7

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