ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.1972G>A (p.Glu658Lys)

gnomAD frequency: 0.00024  dbSNP: rs75731670
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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 RCV001125389 SCV001284451 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001125390 SCV001284452 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 RCV001125391 SCV001284453 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.
Invitae RCV001201773 SCV001372863 likely benign not provided 2023-09-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001201773 SCV003821395 uncertain significance not provided 2023-02-08 criteria provided, single submitter clinical testing
OMIM RCV000019336 SCV000039626 affects BLOOD GROUP--WRIGHT ANTIGEN 1995-01-15 no assertion criteria provided literature only

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