ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.3195G>A (p.Pro1065=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003504428 SCV004354402 likely benign Cranioectodermal dysplasia 1 2023-10-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003901179 SCV004708736 likely benign IFT122-related disorder 2020-10-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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