ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.531G>A (p.Ser177=)

gnomAD frequency: 0.00021  dbSNP: rs150496357
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 RCV000951963 SCV001098423 likely benign Cranioectodermal dysplasia 1 2024-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000951963 SCV002794741 likely benign Cranioectodermal dysplasia 1 2022-02-05 criteria provided, single submitter clinical testing

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