ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.3392-20C>T

gnomAD frequency: 0.00058  dbSNP: rs200747264
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002136769 SCV002401863 benign Cranioectodermal dysplasia 1 2023-12-15 criteria provided, single submitter clinical testing

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