ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.3753G>A (p.Leu1251=)

gnomAD frequency: 0.00003  dbSNP: rs140121479
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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 RCV002065725 SCV002325099 likely benign Acrocallosal syndrome 2021-10-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392686 SCV004130858 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing KIF7: BP4

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