ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.669C>T (p.Tyr223=)

gnomAD frequency: 0.00003  dbSNP: rs139008392
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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) RCV000393842 SCV000342162 uncertain significance not provided 2016-06-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003611508 SCV004559786 likely benign Cranioectodermal dysplasia 1 2023-08-30 criteria provided, single submitter clinical testing

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