ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.849C>T (p.Pro283=)

gnomAD frequency: 0.00004  dbSNP: rs771115196
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 RCV002075045 SCV002371862 likely benign Cranioectodermal dysplasia 1 2024-08-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002075045 SCV005659541 uncertain significance Cranioectodermal dysplasia 1 2024-04-29 criteria provided, single submitter clinical testing

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