ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.3266-19C>T

gnomAD frequency: 0.00040  dbSNP: rs201753855
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 RCV002125230 SCV002441296 likely benign Cranioectodermal dysplasia 1 2023-12-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002125230 SCV002808025 likely benign Cranioectodermal dysplasia 1 2021-11-11 criteria provided, single submitter clinical testing

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