ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.2987+15A>G

gnomAD frequency: 0.00011  dbSNP: rs373111458
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 RCV002078985 SCV002424892 likely benign Cranioectodermal dysplasia 1 2024-09-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002078985 SCV002796169 likely benign Cranioectodermal dysplasia 1 2021-12-16 criteria provided, single submitter clinical testing

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