ClinVar Miner

Submissions for variant NM_001374385.1(ATP8B1):c.1430-126_1430-124del

dbSNP: rs10594129
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001553884 SCV001774970 benign Cholestasis, intrahepatic, of pregnancy, 1 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001553885 SCV001774971 benign Progressive familial intrahepatic cholestasis type 1 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001658285 SCV001873811 benign not provided 2018-06-29 criteria provided, single submitter clinical testing

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