ClinVar Miner

Submissions for variant NM_005689.4(ABCB6):c.1656-1G>A

dbSNP: rs879255549
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Australian Red Cross Blood Service RCV000239440 SCV000297765 affects Langereis blood group 2016-04-15 no assertion criteria provided clinical testing Suspected transfusion reaction. Lan negative phenotype and anti-Lan antibody in the patient's serum. The c.1656-1G>A splice site variant is part of a compound heterozygote (together with ABCB6:c.1118_1124delCGGATCG). This compound heterozygote is the only variation from the reference sequence for ABCB6.

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