Submissions for variant NM_006563.5(KLF1):c.544T>C (p.Phe182Leu)

gnomAD frequency: 0.04509  dbSNP: rs2072596

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000320797	SCV000410850	benign	Congenital dyserythropoietic anemia type 4	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	RCV001613058	SCV001837116	benign	not provided	2021-06-10	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25583416)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001613058	SCV002479836	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001613058	SCV005314739	benign	not provided		criteria provided, single submitter	not provided