ClinVar Miner

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

gnomAD frequency: 0.00026  dbSNP: 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 Laboratory Services, Illumina RCV000309281 SCV000451064 uncertain significance Autosomal recessive proximal renal tubular acidosis 2016-06-14 criteria provided, single submitter clinical testing

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