ClinVar Miner

Submissions for variant NM_001374385.1(ATP8B1):c.3494T>A (p.Phe1165Tyr) (rs946672182)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD, LLC RCV000731164 SCV000858942 uncertain significance not provided 2017-12-26 criteria provided, single submitter clinical testing
Baylor Genetics RCV001335302 SCV001528421 uncertain significance Cholestasis, benign recurrent intrahepatic 1 2018-08-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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