Submissions for variant NM_015662.3(IFT172):c.4540-6C>T

gnomAD frequency: 0.00361  dbSNP: rs146140583

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001573475	SCV000516506	benign	not provided	2019-01-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000526329	SCV000656447	benign	Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573475	SCV004143959	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	IFT172: BP4, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573475	SCV001799412	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000419981	SCV001922333	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001573475	SCV001932838	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573475	SCV001967414	likely benign	not provided		no assertion criteria provided	clinical testing