ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.3159C>T (p.Leu1053=)

gnomAD frequency: 0.00003  dbSNP: rs751712354
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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 RCV000918646 SCV001063964 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2024-12-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004551833 SCV004779789 likely benign IFT172-related disorder 2021-07-27 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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