Submissions for variant NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu)

gnomAD frequency: 0.00284  dbSNP: rs2285644

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248753	SCV000303737	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000388319	SCV000403234	benign	Hemolytic anemia	2018-03-06	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	RCV000974422	SCV001122244	benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
Mendelics	RCV000989924	SCV001140658	benign	Hereditary spherocytosis type 4	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001127356	SCV001286662	benign	Autosomal dominant distal renal tubular acidosis	2018-03-06	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.
Illumina Laboratory Services, Illumina	RCV000989924	SCV001286663	benign	Hereditary spherocytosis type 4	2018-03-06	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	RCV000974422	SCV001944700	benign	not provided	2020-02-13	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20825599, 21637597, 17137217, 24724911, 8206915, 19727826)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000974422	SCV002048077	likely benign	not provided	2023-08-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000974422	SCV005212846	likely benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000019345	SCV000039635	pathogenic	DIEGO BLOOD GROUP ANTIGEN	1994-06-10	no assertion criteria provided	literature only