Submissions for variant NM_000342.4(SLC4A1):c.2716G>C (p.Glu906Gln)

gnomAD frequency: 0.00128  dbSNP: rs199694087

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001127260	SCV001286552	benign	Hereditary spherocytosis type 4	2017-05-23	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001127261	SCV001286553	benign	Autosomal dominant distal renal tubular acidosis	2017-05-23	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001127262	SCV001286554	benign	Hemolytic anemia	2017-05-23	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi	RCV001127261	SCV002102798	likely pathogenic	Autosomal dominant distal renal tubular acidosis	2022-03-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002070082	SCV002341682	benign	not provided	2023-12-18	criteria provided, single submitter	clinical testing
Mendelics	RCV002249736	SCV002519372	uncertain significance	not specified	2022-05-04	criteria provided, single submitter	clinical testing