ClinVar Miner

Submissions for variant NM_001102564.3(IFT43):c.136C>T (p.Leu46=)

gnomAD frequency: 0.00052  dbSNP: rs151137087
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000906941 SCV001051611 likely benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494987 SCV002798153 likely benign Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81 2022-03-31 criteria provided, single submitter clinical testing

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