ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.1380C>T (p.Ser460=)

gnomAD frequency: 0.00021  dbSNP: rs142641511
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001540938 SCV001758877 likely benign not provided 2020-06-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002071957 SCV002411100 likely benign Cranioectodermal dysplasia 1 2024-12-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002071957 SCV002798179 likely benign Cranioectodermal dysplasia 1 2022-04-12 criteria provided, single submitter clinical testing

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