ClinVar Miner

Submissions for variant NM_001102564.3(IFT43):c.215+18A>G

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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 RCV002658690 SCV002985842 likely benign not provided 2022-08-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005002865 SCV005633352 likely benign Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81 2024-02-15 criteria provided, single submitter clinical testing

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