Submissions for variant NM_001369369.1(FOXN1):c.124-20G>A

gnomAD frequency: 0.64317  dbSNP: rs614434

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000420463	SCV000516274	benign	not specified	2015-10-19	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001518211	SCV001726866	benign	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001518211	SCV001933586	benign	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	2021-08-10	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000420463	SCV004233421	benign	not specified	2024-01-24	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 99% of patients studied by a panel of primary immunodeficiencies. Number of patients: 94. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV004709970	SCV005250952	benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003972585	SCV004797816	benign	FOXN1-related disorder	2023-11-21	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).