ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.3327C>A (p.Ser1109=)

gnomAD frequency: 0.00001  dbSNP: rs1464353928
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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 RCV002105212 SCV002398018 likely benign Cranioectodermal dysplasia 1 2021-05-08 criteria provided, single submitter clinical testing

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