ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.3462G>A (p.Leu1154=)

gnomAD frequency: 0.00125  dbSNP: rs150692598
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 RCV000637015 SCV000758463 benign Cranioectodermal dysplasia 1 2023-09-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000637015 SCV002794584 likely benign Cranioectodermal dysplasia 1 2021-09-20 criteria provided, single submitter clinical testing

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