ClinVar Miner

Submissions for variant NM_001102564.3(IFT43):c.468C>T (p.Leu156=)

dbSNP: rs563086463
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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 RCV000926281 SCV001071841 likely benign not provided 2024-08-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005004467 SCV005633367 uncertain significance Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81 2024-04-15 criteria provided, single submitter clinical testing

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