Submissions for variant NM_001174147.2(LMX1B):c.726G>C (p.Ser242=)

gnomAD frequency: 0.41484  dbSNP: rs13295990

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000243969	SCV000308831	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000243969	SCV000345763	benign	not specified	2016-09-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000349276	SCV000477073	benign	Nail-patella syndrome	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000835532	SCV000977325	benign	not provided	2018-05-01	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	RCV000835532	SCV001724148	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730625	SCV001981392	benign	Nail-patella-like renal disease	2021-08-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000349276	SCV001981393	benign	Nail-patella syndrome	2021-08-19	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000243969	SCV005087553	benign	not specified	2024-07-15	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 59% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 55. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV000835532	SCV005319300	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000243969	SCV001930860	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000243969	SCV001959619	benign	not specified		no assertion criteria provided	clinical testing
GenomeConnect, ClinGen	RCV000349276	SCV002074892	not provided	Nail-patella syndrome		no assertion provided	phenotyping only	Variant interpreted as Benign and reported on 06-18-2018 by Lab or GTR ID 239772. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.