ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.1225G>A (p.Val409Ile) (rs201821517)

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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 RCV000376413 SCV000403274 uncertain significance Distal Renal Tubular Acidosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284250 SCV000403275 uncertain significance Hemolytic anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318444 SCV000403276 uncertain significance Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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