ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys) (rs538778224)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000275834 SCV000403295 uncertain significance Distal Renal Tubular Acidosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334118 SCV000403296 uncertain significance Hemolytic anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386246 SCV000403297 uncertain significance Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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