ClinVar Miner

Submissions for variant NM_001102564.3(IFT43):c.383G>A (p.Arg128Gln)

gnomAD frequency: 0.00045  dbSNP: rs138684775
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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 RCV001468631 SCV001672689 likely benign not provided 2025-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506540 SCV002796836 likely benign Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81 2022-05-26 criteria provided, single submitter clinical testing

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