ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) (rs5036)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000251469 SCV000605167 benign not specified 2017-04-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300219 SCV000403307 likely benign Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357412 SCV000403308 likely benign Distal Renal Tubular Acidosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260217 SCV000403309 likely benign Hemolytic anemia 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000019328 SCV000039618 pathogenic Band 3 memphis 2009-03-01 no assertion criteria provided literature only
PreventionGenetics RCV000251469 SCV000303732 benign not specified criteria provided, single submitter clinical testing

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