Submissions for variant NM_015662.3(IFT172):c.1433A>T (p.Asn478Ile)

gnomAD frequency: 0.00061  dbSNP: rs143491198

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000840691	SCV000982623	benign	not provided	2021-05-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079162	SCV001098847	benign	Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71	2024-01-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000840691	SCV004143963	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	IFT172: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics	RCV000840691	SCV005246098	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000840691	SCV001978173	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000840691	SCV001979789	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004549912	SCV004737091	benign	IFT172-related disorder	2019-10-16	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).