ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.2548-20T>A

gnomAD frequency: 0.00002  dbSNP: rs764768307
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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 RCV002149017 SCV002464986 likely benign Cranioectodermal dysplasia 1 2023-09-12 criteria provided, single submitter clinical testing

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