ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.563+7T>C

gnomAD frequency: 0.00004  dbSNP: rs371311619
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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 RCV000952242 SCV001098730 likely benign Cranioectodermal dysplasia 1 2023-06-15 criteria provided, single submitter clinical testing

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