ClinVar Miner

Submissions for variant NM_001098484.3(SLC4A4):c.*1822del (rs567579582)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000309281 SCV000451064 uncertain significance Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 2016-06-14 criteria provided, single submitter clinical testing

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