ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.2584G>A (p.Val862Ile) (rs5026)

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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 RCV000755389 SCV000605170 benign not provided 2018-01-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373059 SCV000403231 likely benign Hemolytic anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259837 SCV000403232 likely benign Distal Renal Tubular Acidosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333719 SCV000403233 likely benign Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000253682 SCV000303738 benign not specified criteria provided, single submitter clinical testing

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