ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.3333C>T (p.Ile1111=)

gnomAD frequency: 0.00004  dbSNP: rs991750889
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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 RCV001431427 SCV001634184 likely benign Cranioectodermal dysplasia 1 2024-04-07 criteria provided, single submitter clinical testing

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