ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala)

gnomAD frequency: 0.00152  dbSNP: rs61747068
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523121 SCV000620028 likely benign not provided 2021-01-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001089402 SCV001095395 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2024-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000523121 SCV002544013 benign not provided 2023-11-01 criteria provided, single submitter clinical testing IFT172: BP4, BS1, BS2
New York Genome Center RCV002467857 SCV002764400 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2021-10-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000523121 SCV005263243 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004553148 SCV004747354 benign IFT172-related disorder 2019-07-03 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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