ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln) (rs121912757)

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Total submissions: 5
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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 Clinical Services Laboratory,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 Clinical Services Laboratory,Illumina RCV001127476 SCV001286791 uncertain significance 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 Clinical Services Laboratory,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.
OMIM RCV000019360 SCV000039650 pathogenic SWANN BLOOD GROUP ANTIGEN 2000-01-01 no assertion criteria provided literature only

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