ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.732C>T (p.Asp244=)

gnomAD frequency: 0.00003  dbSNP: rs202074599
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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 RCV002110669 SCV002435218 likely benign Cranioectodermal dysplasia 1 2025-01-20 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277032 SCV002566843 uncertain significance Connective tissue disorder 2021-10-12 criteria provided, single submitter clinical testing

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