ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.3504G>C (p.Val1168=)

gnomAD frequency: 0.00002  dbSNP: rs368239028
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 RCV001495971 SCV001700662 likely benign Cranioectodermal dysplasia 1 2022-12-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001495971 SCV002802822 likely benign Cranioectodermal dysplasia 1 2021-10-27 criteria provided, single submitter clinical testing

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