ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.42-17C>G

gnomAD frequency: 0.00002  dbSNP: rs752213678
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002199993 SCV002355865 likely benign Cranioectodermal dysplasia 1 2022-11-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002199993 SCV002813068 likely benign Cranioectodermal dysplasia 1 2022-03-09 criteria provided, single submitter clinical testing

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