ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.3594G>T (p.Leu1198=)

gnomAD frequency: 0.00005  dbSNP: rs775936679
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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 RCV002064915 SCV002329691 likely benign Cranioectodermal dysplasia 1 2021-12-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002064915 SCV002796227 likely benign Cranioectodermal dysplasia 1 2022-01-07 criteria provided, single submitter clinical testing

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