ClinVar Miner

Submissions for variant NM_005689.4(ABCB6):c.1123C>T (p.Arg375Trp)

dbSNP: rs764893806
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002500635 SCV002810976 likely pathogenic Familial pseudohyperkalemia; Langereis blood group; Microphthalmia, isolated, with coloboma 7; Dyschromatosis universalis hereditaria 3 2022-04-01 criteria provided, single submitter clinical testing
OMIM RCV000202404 SCV000257437 pathogenic Familial pseudohyperkalemia 2013-01-01 no assertion criteria provided literature only

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