Submissions for variant NM_001174147.2(LMX1B):c.552C>T (p.Ser184=)

gnomAD frequency: 0.00003  dbSNP: rs142488434

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000286370	SCV000477069	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000903955	SCV001048447	benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000903955	SCV001824044	likely benign	not provided	2020-02-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294325	SCV002587371	benign	Focal segmental glomerulosclerosis	2020-12-17	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002488821	SCV002812392	benign	Nail-patella syndrome; Nail-patella-like renal disease	2021-10-02	criteria provided, single submitter	clinical testing