ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.1506G>C (p.Val502=)

gnomAD frequency: 0.00002  dbSNP: rs754396913
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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 RCV002125671 SCV002449753 likely benign Cranioectodermal dysplasia 1 2021-11-15 criteria provided, single submitter clinical testing

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