ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.4248T>C (p.Ala1416=)

gnomAD frequency: 0.00001  dbSNP: rs754200053
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001549370 SCV001769506 likely benign not provided 2018-09-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072025 SCV002391489 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2024-08-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004551901 SCV004785857 likely benign IFT172-related disorder 2021-08-23 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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