ClinVar Miner

Submissions for variant NM_005689.4(ABCB6):c.2359A>G (p.Thr787Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005018655 SCV005647784 uncertain significance Familial pseudohyperkalemia; Langereis blood group; Microphthalmia, isolated, with coloboma 7; Dyschromatosis universalis hereditaria 3 2024-06-16 criteria provided, single submitter clinical testing

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