ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.416+18G>A

gnomAD frequency: 0.00037  dbSNP: rs147288978
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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 RCV002083067 SCV002377766 likely benign Cranioectodermal dysplasia 1 2023-12-27 criteria provided, single submitter clinical testing

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