ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.786-18C>G

dbSNP: rs773491435
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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 RCV002087241 SCV002329924 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2022-12-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005017105 SCV005653564 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-03-10 criteria provided, single submitter clinical testing

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