ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln)

gnomAD frequency: 0.00004  dbSNP: rs121912757
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001070 SCV001158200 uncertain significance not specified 2019-02-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001127475 SCV001286790 benign Autosomal dominant distal renal tubular acidosis 2017-04-27 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 RCV001127476 SCV001286791 uncertain significance Hereditary spherocytosis type 4 2017-04-27 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001127477 SCV001286792 uncertain significance Hemolytic anemia 2017-04-27 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Mayo Clinic Laboratories, Mayo Clinic RCV001507896 SCV001713729 uncertain significance not provided 2021-07-27 criteria provided, single submitter clinical testing
Invitae RCV001507896 SCV003443197 likely benign not provided 2022-04-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001507896 SCV003821383 uncertain significance not provided 2020-10-07 criteria provided, single submitter clinical testing
OMIM RCV000019360 SCV000039650 pathogenic SWANN BLOOD GROUP ANTIGEN 2000-01-01 no assertion criteria provided literature only

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