ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.1431+13T>G

gnomAD frequency: 0.00001  dbSNP: rs747632229
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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 RCV000335191 SCV000403262 uncertain significance Distal Renal Tubular Acidosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000408084 SCV000403263 uncertain significance Hemolytic anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000313462 SCV000403264 uncertain significance Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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