ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.5187C>T (p.Asp1729=)

gnomAD frequency: 0.00015  dbSNP: rs143671920
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000877810 SCV001020599 benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2025-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507541 SCV002807990 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2021-10-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424423 SCV004143957 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing IFT172: BP4, BP7
Dept Of Ophthalmology, Nagoya University RCV003890002 SCV004705220 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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