ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.3582C>T (p.His1194=)

gnomAD frequency: 0.00001  dbSNP: rs376037251
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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 RCV002168659 SCV002426703 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2021-08-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738537 SCV005357248 likely benign IFT172-related disorder 2023-12-29 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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