ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.1629C>T (p.Ile543=)

gnomAD frequency: 0.00002  dbSNP: rs372545849
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000966568 SCV001113906 likely benign not provided 2018-06-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503039 SCV002808082 likely benign Cranioectodermal dysplasia 1 2021-12-15 criteria provided, single submitter clinical testing

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