ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.3114T>G (p.Gly1038=)

gnomAD frequency: 0.00001  dbSNP: rs769225639
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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 RCV002206610 SCV002495331 likely benign Cranioectodermal dysplasia 1 2021-02-12 criteria provided, single submitter clinical testing

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