ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.2442+13C>T

gnomAD frequency: 0.00001  dbSNP: rs749766704
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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 RCV002158097 SCV002423109 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2024-11-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005017137 SCV005651411 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-05-10 criteria provided, single submitter clinical testing

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