ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.4134G>A (p.Lys1378=)

gnomAD frequency: 0.00001  dbSNP: rs1039315733
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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 RCV002208891 SCV002356831 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2023-12-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498198 SCV002795780 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2022-02-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738515 SCV005360952 likely benign IFT172-related disorder 2023-06-16 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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