ClinVar Miner

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

gnomAD frequency: 0.00128  dbSNP: rs199694087
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Total submissions: 6
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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

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