ClinVar Miner

Submissions for variant NM_001102564.3(IFT43):c.55-17T>C

gnomAD frequency: 0.00006  dbSNP: rs200685248
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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 RCV001513000 SCV001720518 benign not provided 2025-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501772 SCV002807977 benign Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81 2021-10-29 criteria provided, single submitter clinical testing

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