Submissions for variant NM_014714.4(IFT140):c.3270+19T>C

gnomAD frequency: 0.96626  dbSNP: rs2745176

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000601310	SCV000728722	benign	not specified	2017-09-13	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000612733	SCV000745463	benign	Saldino-Mainzer syndrome	2015-09-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000612733	SCV001723354	benign	Saldino-Mainzer syndrome	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001544452	SCV001763497	benign	Retinitis pigmentosa 80	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000612733	SCV001763498	benign	Saldino-Mainzer syndrome	2021-07-14	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004716583	SCV005297142	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000612733	SCV000733491	benign	Saldino-Mainzer syndrome		no assertion criteria provided	clinical testing