ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.978G>A (p.Thr326=)

gnomAD frequency: 0.00003  dbSNP: rs781409395
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000303023 SCV000334961 uncertain significance not provided 2015-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059123 SCV002397706 likely benign Cranioectodermal dysplasia 1 2023-12-20 criteria provided, single submitter clinical testing

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