ClinVar Miner

Submissions for variant NM_001098484.3(SLC4A4):c.*175del

gnomAD frequency: 0.17341  dbSNP: rs138389345
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000379813 SCV000451037 benign Autosomal recessive proximal renal tubular acidosis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001692006 SCV001915502 benign not provided 2021-05-15 criteria provided, single submitter clinical testing

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