ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.2193+10T>A

gnomAD frequency: 0.00024  dbSNP: rs368782783
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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 RCV001406906 SCV001608868 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2024-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487973 SCV002800495 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2022-01-07 criteria provided, single submitter clinical testing

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