ClinVar Miner

Submissions for variant NM_000420.3(KEL):c.2065G>T (p.Asp689Tyr)

dbSNP: rs144613404
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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 RCV001089646 SCV001162772 affects not provided 2020-02-10 no assertion criteria provided research The patient, this variant was found in, showed discrepant KEL:2 results between different antisera used. some antisera was KEL:2 negative and some was weakly KEL:2 positive. Patient was heterozygous for the antithetical allele KEL:1.

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