ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.*1103del

gnomAD frequency: 0.06180  dbSNP: rs111655803
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000393520 SCV000403180 likely benign Hemolytic anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000303238 SCV000403181 likely benign Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000357983 SCV000403182 likely benign Distal Renal Tubular Acidosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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