ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.2985G>A (p.Val995=)

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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 RCV003793177 SCV004580889 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2023-03-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004554331 SCV004715195 likely benign IFT172-related disorder 2023-12-01 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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