ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.417-16T>C

gnomAD frequency: 0.00029  dbSNP: rs192128912
Minimum review status: Collection method:
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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 RCV002163453 SCV002465485 likely benign Cranioectodermal dysplasia 1 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002163453 SCV002812015 likely benign Cranioectodermal dysplasia 1 2021-10-03 criteria provided, single submitter clinical testing

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