ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.2388A>G (p.Thr796=)

gnomAD frequency: 0.00003  dbSNP: rs750450341
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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 RCV002120843 SCV002440858 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2024-12-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500190 SCV002812344 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2021-09-08 criteria provided, single submitter clinical testing

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