ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.4539+10C>T

gnomAD frequency: 0.00002  dbSNP: rs778633701
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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 RCV001460874 SCV001664756 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2023-07-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711652 SCV005263239 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004550209 SCV004734587 likely benign IFT172-related disorder 2023-12-13 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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