ClinVar Miner

Submissions for variant NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) (rs45562031)

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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 RCV000512811 SCV000605168 uncertain significance not provided 2017-12-15 criteria provided, single submitter clinical testing
Bioinformatics dept.,Datar Cancer Genetics Limited, India RCV000494697 SCV000579503 likely pathogenic Pseudohyperkalemia Cardiff 2017-06-23 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512811 SCV000608818 uncertain significance not provided 2017-02-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298897 SCV000403310 likely benign Hemolytic anemia 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000019333 SCV000039623 pathogenic Spherocytosis type 4 1993-04-15 no assertion criteria provided literature only
PreventionGenetics RCV000247655 SCV000303728 likely benign not specified criteria provided, single submitter clinical testing

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