ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.1533C>T (p.Thr511=) (rs765678675)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000897719 SCV001041880 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276309 SCV001462443 uncertain significance Progressive familial intrahepatic cholestasis 2 2020-03-11 no assertion criteria provided clinical testing

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