ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.2103C>A (p.Ile701=)

gnomAD frequency: 0.00009  dbSNP: rs138604630
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001475483 SCV001679673 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2024-12-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005014573 SCV005651432 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-03-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004550231 SCV004725748 likely benign IFT172-related disorder 2022-01-22 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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