ClinVar Miner

Submissions for variant NM_001102564.3(IFT43):c.570G>A (p.Glu190=)

gnomAD frequency: 0.00004  dbSNP: rs201394224
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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 RCV000953330 SCV001099895 likely benign not provided 2024-10-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505420 SCV002802402 likely benign Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81 2022-02-04 criteria provided, single submitter clinical testing

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